ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) (rs148902254)

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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 RCV000080257 SCV000112152 benign not specified 2013-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000080257 SCV000524732 likely benign not specified 2017-05-11 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 RCV000531869 SCV000649637 benign Dysferlinopathy 2017-07-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711554 SCV000841933 benign not provided 2017-12-20 criteria provided, single submitter clinical testing

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