ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)

gnomAD frequency: 0.00039  dbSNP: rs116974302
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434684 SCV000523692 benign not specified 2016-05-20 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 RCV001082058 SCV000651107 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711692 SCV000842079 benign not provided 2018-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356555 SCV002661286 benign Cardiovascular phenotype 2019-06-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000434684 SCV004222926 benign not specified 2023-11-20 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000434684 SCV001979100 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000711692 SCV001979413 likely benign not provided no assertion criteria provided clinical testing

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