ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)

gnomAD frequency: 0.00001  dbSNP: rs180177294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186344 SCV000487246 likely pathogenic Primary hyperoxaluria, type I 2016-11-02 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186344 SCV000239690 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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