ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.777-1G>C (rs180177267)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169101 SCV000239721 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research
Counsyl RCV000169101 SCV000220293 likely pathogenic Primary hyperoxaluria, type I 2014-05-01 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000169101 SCV000893591 pathogenic Primary hyperoxaluria, type I 2018-10-31 criteria provided, single submitter clinical testing

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