ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2982C>T (p.Gly994=)

gnomAD frequency: 0.00001  dbSNP: rs947174901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002073271 SCV002324506 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-08-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699713 SCV001926210 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724392 SCV001952972 likely benign not provided no assertion criteria provided clinical testing

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