ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.573C>T (p.Thr191=)

gnomAD frequency: 0.00108  dbSNP: rs146483092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892889 SCV001036796 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001825799 SCV002797473 likely benign Primary hyperoxaluria, type I 2021-10-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000892889 SCV005242879 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001825799 SCV002076466 likely benign Primary hyperoxaluria, type I 2019-10-24 no assertion criteria provided clinical testing

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