ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.343A>G (p.Met115Val) (rs587781262)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and RNA Biology,University of Milan RCV000143858 SCV000172437 pathogenic Deafness, X-linked 1 2013-10-01 criteria provided, single submitter research
Molecular Genetics and RNA Biology,University of Milan RCV000143859 SCV000172438 pathogenic Charcot-Marie-Tooth disease, X-linked recessive, type 5 2013-10-01 criteria provided, single submitter research
OMIM RCV000143859 SCV000264582 pathogenic Charcot-Marie-Tooth disease, X-linked recessive, type 5 2014-09-03 no assertion criteria provided literature only

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