ClinVar Genomic variation as it relates to human health
NM_001458.5(FLNC):c.338del (p.Lys113fs)
Germline
Classification
(2)
Pathogenic
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 | |||
FLNC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3163 | 4887 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 5, 2019 | RCV002451894.2 | |
Pathogenic (1) |
|
Apr 4, 2022 | RCV003099444.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024