ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5133G>A (p.Pro1711=)

gnomAD frequency: 0.00001  dbSNP: rs754646406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000926037 SCV001071594 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001550679 SCV001771049 likely benign not provided 2019-03-20 criteria provided, single submitter clinical testing

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