ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2266-14G>C

gnomAD frequency: 0.01030  dbSNP: rs75612085
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243348 SCV000307938 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001705354 SCV000519348 benign not provided 2018-03-22 criteria provided, single submitter clinical testing
Invitae RCV002058051 SCV002330120 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000243348 SCV003929234 benign not specified 2023-04-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705354 SCV004564978 benign not provided 2023-09-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000243348 SCV001921178 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001705354 SCV001953080 likely benign not provided no assertion criteria provided clinical testing

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