ClinVar Genomic variation as it relates to human health
NM_001110556.2(FLNA):c.7848G>A (p.Val2616=)
Germline
Classification
(1)
Likely benign
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 | |||
FLNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3067 | 3496 | |
LOC107988032 | - | - | - | GRCh38 | - | 275 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 23, 2022 | RCV002842691.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024