ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)

gnomAD frequency: 0.00233  dbSNP: rs34664134
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186224 SCV000239548 benign Primary hyperoxaluria, type I 2023-12-01 criteria provided, single submitter clinical testing Found in cis with c.557C>T in two unrelated individuals. ACMG:BS1 BS2 BP6
Illumina Laboratory Services, Illumina RCV000186224 SCV000429365 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.
Eurofins Ntd Llc (ga) RCV000594889 SCV000700569 benign not specified 2015-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514944 SCV001722914 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001514944 SCV001950701 benign not provided 2019-06-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20981092, 24205397, 21228398, 19245173, 27884173, 28906061, 30341509, 33457257)
Fulgent Genetics, Fulgent Genetics RCV000186224 SCV002799178 benign Primary hyperoxaluria, type I 2022-04-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001514944 SCV005261960 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000186224 SCV002076468 benign Primary hyperoxaluria, type I 2019-11-15 no assertion criteria provided clinical testing

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