ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) (rs139661803)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535214 SCV000655649 benign Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173661 SCV001336763 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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