ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.792G>A (p.Arg264=) (rs141609469)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535522 SCV000655646 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000600485 SCV000726857 likely benign not specified 2018-02-12 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173664 SCV001336766 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286884 SCV001473507 likely benign none provided 2020-04-17 criteria provided, single submitter clinical testing

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