ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) (rs137852477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010712 SCV000030938 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1988-05-01 no assertion criteria provided literature only
OMIM RCV000010713 SCV000030939 other HPRT ANN ARBOR 2020-09-10 no assertion criteria provided literature only

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