ClinVar Genomic variation as it relates to human health
NM_152365.3(KDF1):c.657C>A (p.Phe219Leu)
Germline
Classification
(3)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
KDF1 | - | - |
GRCh38 GRCh37 |
76 | 86 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 29, 2023 | RCV002937279.2 | |
KDF1-related disorder
|
Likely benign (1) |
|
Jun 10, 2019 | RCV003936376.1 |
Likely benign (1) |
|
May 4, 2023 | RCV003994472.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024