ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) (rs150702945)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186477 SCV000800579 uncertain significance Primary hyperoxaluria, type III 2017-08-17 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186477 SCV000239837 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided research Predicted pathological. Found in trans with c.700+5G>T; raised HOG

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