ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter)

dbSNP: rs137852489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631414 SCV000752487 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 2021-07-12 criteria provided, single submitter clinical testing
OMIM RCV000010746 SCV000030972 pathogenic Lesch-Nyhan syndrome 1990-06-01 no assertion criteria provided literature only

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