ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.597C>A (p.Ala199=) (rs149788020)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428275 SCV000516112 benign not specified 2015-06-19 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.
Invitae RCV000469894 SCV000560913 benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282029 SCV001157867 benign Basel-Vanagaite-Smirin-Yosef syndrome 2020-04-30 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173674 SCV001336776 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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