ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser) (rs587781261)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and RNA Biology,University of Milan RCV000143857 SCV000172436 pathogenic Deafness, X-linked 1 2013-10-01 criteria provided, single submitter research
OMIM RCV000143857 SCV000264581 pathogenic Deafness, X-linked 1 2014-09-03 no assertion criteria provided literature only

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