ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)

gnomAD frequency: 0.00006  dbSNP: rs376684240
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670153 SCV000794977 uncertain significance Primary hyperoxaluria, type I 2017-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000670153 SCV002786899 uncertain significance Primary hyperoxaluria, type I 2022-02-28 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000670153 SCV004217828 uncertain significance Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter curation ACMG:PM2 PM3 PP3 BP2

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