ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.175G>A (p.Glu59Lys)

gnomAD frequency: 0.00001  dbSNP: rs767586362
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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 RCV000186284 SCV000239612 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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