ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) (rs35884879)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153176 SCV000202646 benign not specified 2013-12-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710127 SCV000613193 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing
Invitae RCV000553792 SCV000649633 benign Dysferlinopathy 2017-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000153176 SCV000714973 benign not specified 2017-09-12 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.

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