Submissions for variant NM_001458.5(FLNC):c.2841C>T (p.Gly947=)

gnomAD frequency: 0.00010  dbSNP: rs547060988

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000550584	SCV000650961	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2025-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001584312	SCV001811755	likely benign	not provided	2018-11-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002438464	SCV002752677	likely benign	Cardiovascular phenotype	2019-01-07	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486877	SCV004240634	benign	Cardiomyopathy	2023-06-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700413	SCV001917589	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001584312	SCV001971781	likely benign	not provided		no assertion criteria provided	clinical testing