ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.1184A>T (p.Lys395Met)

gnomAD frequency: 0.02155  dbSNP: rs34929837
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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 RCV000268600 SCV000430056 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000644558 SCV000766258 benign Xanthinuria type II 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001535051 SCV001752029 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000268600 SCV002513981 benign Hereditary xanthinuria type 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001535051 SCV005263333 likely benign not provided criteria provided, single submitter not provided

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