ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) (rs104893969)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006493 SCV000026676 pathogenic Molybdenum cofactor deficiency, complementation group A 1998-12-01 no assertion criteria provided literature only

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