ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.3084C>T (p.Gly1028=)

gnomAD frequency: 0.01858  dbSNP: rs45604135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339350 SCV000430026 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). 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 RCV000966444 SCV001113766 benign Xanthinuria type II 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001618593 SCV001847343 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000339350 SCV002513959 benign Hereditary xanthinuria type 1 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000339350 SCV002803316 likely benign Hereditary xanthinuria type 1 2021-10-05 criteria provided, single submitter clinical testing

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