ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.477C>T (p.Pro159=) (rs117101415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086599 SCV000655641 benign Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2020-11-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756322 SCV000884093 benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174283 SCV001337413 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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