ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)

gnomAD frequency: 0.00001  dbSNP: rs777601935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186479 SCV000239839 likely pathogenic Primary hyperoxaluria type 3 2023-10-27 criteria provided, single submitter clinical testing ACMG: PM1 PM2 PM3 PM5 PP3
Counsyl RCV000186479 SCV000800640 uncertain significance Primary hyperoxaluria type 3 2017-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000186479 SCV002792420 uncertain significance Primary hyperoxaluria type 3 2022-03-02 criteria provided, single submitter clinical testing

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