ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)

gnomAD frequency: 0.00719  dbSNP: rs115014558
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000314232 SCV000331578 benign not specified 2015-09-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000314232 SCV000538244 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC frequency
Mendelics RCV000186218 SCV001136272 likely benign Primary hyperoxaluria, type I 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000186218 SCV001299484 likely benign Primary hyperoxaluria, type I 2018-02-13 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001510634 SCV001717726 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001510634 SCV001843076 benign not provided 2018-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28969594, 27884173, 15849466, 21228398, 20981092, 17495019)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000314232 SCV002051220 likely benign not specified 2021-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001510634 SCV004149692 benign not provided 2022-11-01 criteria provided, single submitter clinical testing AGXT: BP4, BS1, BS2
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186218 SCV000239541 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Natera, Inc. RCV000186218 SCV001456044 benign Primary hyperoxaluria, type I 2020-09-16 no assertion criteria provided clinical testing

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