Submissions for variant NM_001458.5(FLNC):c.6387C>T (p.Thr2129=)

gnomAD frequency: 0.00011  dbSNP: rs200182180

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000530143	SCV000651117	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358581	SCV002655281	likely benign	Cardiovascular phenotype	2019-08-22	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	RCV003150274	SCV003838450	likely benign	Cardiomyopathy	2021-10-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001702513	SCV004161046	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702513	SCV001929606	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702513	SCV001968113	likely benign	not provided		no assertion criteria provided	clinical testing