Submissions for variant NM_001458.5(FLNC):c.8136C>T (p.Asp2712=)

gnomAD frequency: 0.00001  dbSNP: rs748104907

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001434031	SCV001636831	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-09-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001544639	SCV001763810	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002420980	SCV002681729	likely benign	Cardiovascular phenotype	2021-03-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center	RCV001796494	SCV002034695	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001544639	SCV002035428	likely benign	not provided		no assertion criteria provided	clinical testing