ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.221_227dup (p.Val77fs)

dbSNP: rs180177183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186385 SCV000788567 likely pathogenic Primary hyperoxaluria, type I 2017-01-24 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186385 SCV000239735 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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