ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.401C>A (p.Pro134His)

dbSNP: rs863225122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000201516 SCV000256222 pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2W 2015-08-01 no assertion criteria provided literature only

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