ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.557C>T (p.Ala186Val) (rs117195882)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000186223 SCV000429364 likely benign Primary hyperoxaluria, type I 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597486 SCV000700570 benign not specified 2015-08-24 criteria provided, single submitter clinical testing
Invitae RCV001514943 SCV001722913 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186223 SCV000239547 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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