ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.771C>T (p.Cys257=)

gnomAD frequency: 0.00015  dbSNP: rs550989147
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000918771 SCV001064092 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273647 SCV001456953 uncertain significance Primary hyperoxaluria type 3 2020-04-11 no assertion criteria provided clinical testing

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