Submissions for variant NM_001458.5(FLNC):c.5766G>A (p.Ala1922=)

gnomAD frequency: 0.00108  dbSNP: rs58914363

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241629	SCV000307967	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001697721	SCV000528950	benign	not provided	2020-05-18	criteria provided, single submitter	clinical testing
Invitae	RCV000527971	SCV000651088	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
CeGaT Center for Human Genetics Tuebingen	RCV001697721	SCV002497563	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7
Ambry Genetics	RCV002356345	SCV002651734	likely benign	Cardiovascular phenotype	2019-04-16	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	RCV003486790	SCV004240662	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000241629	SCV005040627	benign	not specified	2024-03-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000241629	SCV001919614	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000241629	SCV001927303	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000241629	SCV001953863	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001697721	SCV001968946	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001697721	SCV002036530	likely benign	not provided		no assertion criteria provided	clinical testing