ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=)

gnomAD frequency: 0.00018  dbSNP: rs149989207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430075 SCV000533112 likely benign not specified 2016-11-04 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.
Athena Diagnostics RCV001288160 SCV001475091 likely benign not provided 2020-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001452453 SCV001656118 likely benign Qualitative or quantitative defects of dysferlin 2024-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942446 SCV004765725 likely benign DYSF-related disorder 2022-10-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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