ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)

dbSNP: rs772722925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670604 SCV000795476 uncertain significance Primary hyperoxaluria type 3 2017-11-08 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000670604 SCV004174320 likely pathogenic Primary hyperoxaluria type 3 2023-10-27 criteria provided, single submitter clinical testing ACMG:PM1 PM2 PM5 PP3

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