ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2145C>T (p.Asp715=)

dbSNP: rs1585157201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448402 SCV001651493 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-07-19 criteria provided, single submitter clinical testing

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