ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.701-18G>C

gnomAD frequency: 0.00034  dbSNP: rs201596675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002517835 SCV003521378 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186470 SCV000239828 uncertain significance Primary hyperoxaluria type 3 2014-11-27 no assertion criteria provided research

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