ClinVar Genomic variation as it relates to human health
NM_001457.4(FLNB):c.4222G>A (p.Gly1408Ser)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
FLNB | No evidence available | No evidence available |
GRCh38 GRCh37 |
1929 | 2145 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 23, 2022 | RCV003110307.4 | |
Pathogenic (1) |
|
Mar 27, 2024 | RCV003991485.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024