ClinVar Genomic variation as it relates to human health
NM_020159.5(SMARCAD1):c.1281+666dup
Germline
Classification
(2)
Likely pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SMARCAD1 | - | - |
GRCh38 GRCh37 |
74 | 98 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 14, 2019 | RCV000761205.1 | |
Likely pathogenic (1) |
|
Nov 25, 2019 | RCV001592946.3 |
Citations for germline classification of this variant
HelpText-mined citations for rs1560542214 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Aug 06, 2023
NCBI staff reviewed the trace in Figure 1 of the paper by Günther et al., 2018 (PubMed 29409814) to define the location of this allele.