ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.732C>A (p.Ile244=)

gnomAD frequency: 0.00234  dbSNP: rs147106773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253631 SCV000301574 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269803 SCV000429369 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.
Invitae RCV000958903 SCV001105788 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000958903 SCV001910723 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000269803 SCV002804819 likely benign Primary hyperoxaluria, type I 2021-12-22 criteria provided, single submitter clinical testing

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