ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1371G>A (p.Ala457=)

dbSNP: rs140667960
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593047 SCV000704350 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000593047 SCV000984079 likely benign not provided 2018-04-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087712 SCV001064221 likely benign Qualitative or quantitative defects of dysferlin 2024-02-13 criteria provided, single submitter clinical testing

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