ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.1A>G (p.Met1Val)

dbSNP: rs2124280504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV002274283 SCV002558840 pathogenic Lesch-Nyhan syndrome 2022-07-14 criteria provided, single submitter clinical testing

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