ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.1820G>A (p.Arg607Gln)

gnomAD frequency: 0.00254  dbSNP: rs45442092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644555 SCV000766255 likely benign Xanthinuria type II 2024-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001142628 SCV001303090 likely benign Hereditary xanthinuria type 1 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). 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.
CeGaT Center for Human Genetics Tuebingen RCV003432684 SCV004144054 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing XDH: BP4

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