ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) (rs193291405)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204538 SCV000261902 benign Charcot-Marie-Tooth disease, type 2 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000426883 SCV000513585 likely benign not specified 2015-08-07 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282946 SCV001159099 benign Basel-Vanagaite-Smirin-Yosef syndrome 2020-04-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173683 SCV001336785 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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