ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.2031G>A (p.Ala677=) (rs57854058)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126730 SCV000170242 benign not specified 2014-01-20 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 RCV000756327 SCV000262133 benign Charcot-Marie-Tooth disease, type 2 2020-12-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283332 SCV000884102 benign Basel-Vanagaite-Smirin-Yosef syndrome 2020-08-05 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173681 SCV001336783 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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