ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)

dbSNP: rs180177172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186281 SCV000791420 likely pathogenic Primary hyperoxaluria, type I 2017-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000186281 SCV002790123 pathogenic Primary hyperoxaluria, type I 2022-02-15 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186281 SCV000239609 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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