Submissions for variant NM_001458.5(FLNC):c.4928-7T>C

gnomAD frequency: 0.00286  dbSNP: rs201957008

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176925	SCV000228702	benign	not specified	2014-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176925	SCV000307957	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000176925	SCV000523699	benign	not specified	2016-08-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000551130	SCV000651047	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000176925	SCV000711504	benign	not specified	2017-04-10	criteria provided, single submitter	clinical testing	c.4928-7T>C in intron 28 of FLNC: This variant is not expected to have clinical significance because it has been identified in 1.1% (185/16270) of South Asian c hromosomes, including 1 homozygote by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs201957008).
CeGaT Center for Human Genetics Tuebingen	RCV001573908	SCV002545560	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573908	SCV003800186	benign	not provided	2022-03-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000176925	SCV004242106	benign	not specified	2023-12-10	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573908	SCV001800444	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000176925	SCV001923019	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573908	SCV001931475	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001573908	SCV001953077	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000176925	SCV001970635	benign	not specified		no assertion criteria provided	clinical testing