ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.976G>A (p.Val326Ile)

gnomAD frequency: 0.00394  dbSNP: rs115057148
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245721 SCV000301575 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000974721 SCV001122570 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000186264 SCV001299624 benign Primary hyperoxaluria, type I 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186264 SCV000239588 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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