Submissions for variant NM_001458.5(FLNC):c.5070C>T (p.Leu1690=)

gnomAD frequency: 0.00031  dbSNP: rs202027738

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001580494	SCV000529443	likely benign	not provided	2021-08-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555864	SCV000651050	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001580494	SCV002545562	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7, BS1
Ambry Genetics	RCV002339061	SCV002644095	likely benign	Cardiovascular phenotype	2019-01-14	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.
Fulgent Genetics, Fulgent Genetics	RCV002506056	SCV002810228	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2021-08-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004689737	SCV005184576	benign	not specified	2024-05-26	criteria provided, single submitter	clinical testing