ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.875T>C (p.Met292Thr)

dbSNP: rs796052087
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186485 SCV000239847 pathogenic Primary hyperoxaluria type 3 2014-11-27 no assertion criteria provided in vitro Negligible activity in vitro (Williams & Rumsby, unpublished)

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