ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)

gnomAD frequency: 0.00003  dbSNP: rs536205988
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001278701 SCV002790698 uncertain significance Primary hyperoxaluria, type I 2022-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278701 SCV001465733 uncertain significance Primary hyperoxaluria, type I 2020-08-13 no assertion criteria provided clinical testing

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