ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)

gnomAD frequency: 0.00047  dbSNP: rs116455504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422035 SCV001624573 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001278339 SCV002795722 likely benign Primary hyperoxaluria type 3 2021-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278339 SCV001465341 uncertain significance Primary hyperoxaluria type 3 2020-04-11 no assertion criteria provided clinical testing

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