ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.626G>A (p.Ser209Asn) (rs141671963)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421713 SCV000526150 likely benign not specified 2018-02-05 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 RCV000873762 SCV001015818 benign Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2019-12-31 criteria provided, single submitter clinical testing

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