ClinVar Miner

Submissions for variant HPRT CHERMSIDE

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010783 SCV000031010 pathogenic Lesch-Nyhan syndrome 1991-12-15 no assertion criteria provided literature only
OMIM RCV001255650 SCV001432211 pathogenic HPRT CHERMSIDE 1991-12-15 no assertion criteria provided literature only

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