Submissions for variant NM_001458.5(FLNC):c.3000T>C (p.Asp1000=)

gnomAD frequency: 0.00110  dbSNP: rs184454068

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249182	SCV000307945	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000552303	SCV000650967	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001640514	SCV001860104	benign	not provided	2021-01-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001640514	SCV002545558	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7
Ambry Genetics	RCV002436082	SCV002750780	likely benign	Cardiovascular phenotype	2019-04-14	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	RCV002494730	SCV002801983	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2021-09-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000249182	SCV001920684	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000249182	SCV001954060	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001640514	SCV001963714	likely benign	not provided		no assertion criteria provided	clinical testing