ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.3488A>G (p.Glu1163Gly)

gnomAD frequency: 0.00226  dbSNP: rs55886939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553570 SCV000645763 benign Immunodeficiency 35 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000603506 SCV000730454 benign not specified 2017-02-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000553570 SCV001283495 benign Immunodeficiency 35 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV004717655 SCV005311948 benign not provided criteria provided, single submitter not provided

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