ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.610C>G (p.His204Asp)

dbSNP: rs137852490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Elsea Laboratory, Baylor College of Medicine RCV001250108 SCV001424237 likely pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 2020-04-01 criteria provided, single submitter clinical testing
OMIM RCV000010747 SCV000030973 pathogenic Lesch-Nyhan syndrome 1990-06-01 no assertion criteria provided literature only

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