ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.424-4T>C

gnomAD frequency: 0.00036  dbSNP: rs369523966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000883322 SCV001026618 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001276581 SCV002804299 likely benign Primary hyperoxaluria, type I 2021-10-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276581 SCV001462984 uncertain significance Primary hyperoxaluria, type I 2020-01-24 no assertion criteria provided clinical testing

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