ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) (rs137852494)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010759 SCV000030985 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1983-09-01 no assertion criteria provided literature only
OMIM RCV000010760 SCV000030986 other HPRT TORONTO 2017-09-27 no assertion criteria provided literature only

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