ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) (rs137852483)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010734 SCV000030960 pathogenic Lesch-Nyhan syndrome 1989-03-01 no assertion criteria provided literature only
OMIM RCV000010735 SCV000030961 other HPRT MIDLAND 2017-09-26 no assertion criteria provided literature only

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