ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_70497094)_(70834803_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
COG4 | - | - |
GRCh38 GRCh37 |
324 | 373 | |
FCSK | - | - |
GRCh38 GRCh37 |
469 | 515 | |
IL34 | - | - |
GRCh38 GRCh37 |
17 | 62 | |
MTSS2 | - | - |
GRCh38 GRCh37 |
77 | 117 | |
SF3B3 | - | - |
GRCh38 GRCh37 |
26 | 71 | |
VAC14 | - | - |
GRCh38 GRCh37 |
349 | 446 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 13, 2022 | RCV003119866.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023