ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) (rs1594821331)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Care4Rare-SOLVE, CHEO RCV000855533 SCV000998544 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2u 2019-10-31 criteria provided, single submitter research
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173426 SCV001336514 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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