ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) (rs137852479)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010716 SCV000030942 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1989-07-01 no assertion criteria provided literature only
OMIM RCV000010717 SCV000030943 other HPRT ASHVILLE 2017-09-26 no assertion criteria provided literature only

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