ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7599C>T (p.Ala2533=)

gnomAD frequency: 0.00001  dbSNP: rs1184080931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001501951 SCV001706773 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2025-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005256813 SCV005909473 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7

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