ClinVar Miner

Submissions for variant NM_004531.5(MOCS2):c.346_349del (p.Val116fs) (rs398122798)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000288995 SCV000457865 uncertain significance Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000006484 SCV000026667 pathogenic Molybdenum cofactor deficiency, complementation group B 1999-03-01 no assertion criteria provided literature only

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