ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.165+44T>A

gnomAD frequency: 0.00033  dbSNP: rs58120546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004692784 SCV005187474 uncertain significance not provided criteria provided, single submitter not provided
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186229 SCV000239553 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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