ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1059C>G (p.Leu353=)

gnomAD frequency: 0.00001  dbSNP: rs760418462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001500709 SCV001705504 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426160 SCV004161025 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7

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