ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7781-9A>G

dbSNP: rs531760477
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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 RCV000873058 SCV001014985 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432835 SCV004161054 benign not provided 2022-07-01 criteria provided, single submitter clinical testing FLNC: BS1, BS2

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