ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5540-20C>T

gnomAD frequency: 0.00048  dbSNP: rs556203733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001647764 SCV001857142 benign not provided 2019-11-26 criteria provided, single submitter clinical testing
Invitae RCV002072978 SCV002387385 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-17 criteria provided, single submitter clinical testing

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