ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5399-17C>T

dbSNP: rs930809365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073282 SCV002487650 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699676 SCV001924024 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703334 SCV001927629 likely benign not provided no assertion criteria provided clinical testing

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