ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.602-11C>T

gnomAD frequency: 0.00010  dbSNP: rs371111092
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609279 SCV000714030 benign not specified 2017-09-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002062165 SCV002329157 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000609279 SCV004223374 benign not specified 2023-11-06 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000609279 SCV001926209 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000609279 SCV001958775 benign not specified no assertion criteria provided clinical testing

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