ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4728C>T (p.Val1576=)

gnomAD frequency: 0.00001  dbSNP: rs1222823077
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002073417 SCV002335605 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-03-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150456 SCV003837901 likely benign Cardiomyopathy 2022-02-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001730233 SCV004161041 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730233 SCV001978013 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001730233 SCV001979615 likely benign not provided no assertion criteria provided clinical testing

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