ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) (rs137852494)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153366 SCV000202850 pathogenic not provided 2013-12-02 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000010761 SCV000923596 pathogenic Lesch-Nyhan syndrome 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000010761 SCV000030987 pathogenic Lesch-Nyhan syndrome 1990-04-01 no assertion criteria provided literature only
OMIM RCV000010762 SCV000030988 other HPRT FUJIMI 2011-05-12 no assertion criteria provided literature only

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