ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.595T>G (p.Phe199Val)

dbSNP: rs137852486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010740 SCV000030966 pathogenic Lesch-Nyhan syndrome 1989-07-01 no assertion criteria provided literature only
OMIM RCV000010741 SCV000030967 other HPRT NEW BRITON 2017-09-26 no assertion criteria provided literature only

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