ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) (rs121908833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006565 SCV000026748 pathogenic Charcot-Marie-Tooth disease, dominant intermediate C 2006-02-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789620 SCV000928986 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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