ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.1008G>A (p.Leu336=) (rs140232925)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439139 SCV000534241 likely benign not specified 2016-11-23 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 RCV001002454 SCV001001331 benign Charcot-Marie-Tooth disease, dominant intermediate C 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000861108 SCV001146658 benign not provided 2019-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002454 SCV001160396 likely benign Charcot-Marie-Tooth disease, dominant intermediate C 2018-07-31 criteria provided, single submitter clinical testing

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