ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.1128C>T (p.Ile376=) (rs777332870)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431038 SCV000524396 likely benign not specified 2016-02-24 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 RCV000876594 SCV001019186 likely benign not provided 2018-08-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000876594 SCV001246698 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV001423770 SCV001626353 likely benign Charcot-Marie-Tooth disease, dominant intermediate C 2020-02-11 criteria provided, single submitter clinical testing

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