ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2265+12C>G

gnomAD frequency: 0.17192  dbSNP: rs2291566
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217056 SCV000269119 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 2265+12C>G in intron 14 of FLNC: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 36.7% (1523/4152) of African American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs2291566).
PreventionGenetics, part of Exact Sciences RCV000217056 SCV000307937 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000217056 SCV000519420 benign not specified 2016-02-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000217056 SCV001774556 benign not specified 2021-07-08 criteria provided, single submitter clinical testing
Invitae RCV002054373 SCV002352749 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000217056 SCV001923167 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000217056 SCV001955617 benign not specified no assertion criteria provided clinical testing

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