ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) (rs387906428)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010724 SCV000030950 pathogenic Lesch-Nyhan syndrome 1990-06-01 no assertion criteria provided literature only
OMIM RCV000010725 SCV000030951 other HPRT EVANSVILLE 2017-09-26 no assertion criteria provided literature only

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