ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) (rs137852488)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790697 SCV000331771 likely pathogenic not provided 2017-06-13 criteria provided, single submitter clinical testing
OMIM RCV000010744 SCV000030970 pathogenic Lesch-Nyhan syndrome 1989-01-01 no assertion criteria provided literature only
OMIM RCV000010745 SCV000030971 other HPRT YALE 2011-05-12 no assertion criteria provided literature only

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