ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)

gnomAD frequency: 0.00001  dbSNP: rs786204545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169258 SCV000220547 likely pathogenic Primary hyperoxaluria, type I 2014-07-23 criteria provided, single submitter literature only
Fulgent Genetics, Fulgent Genetics RCV000169258 SCV005651631 pathogenic Primary hyperoxaluria, type I 2024-04-29 criteria provided, single submitter clinical testing

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