ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) (rs34536443)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126195 SCV000169690 benign not specified 2014-04-28 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.
PreventionGenetics,PreventionGenetics RCV000126195 SCV000309572 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000528354 SCV000410277 likely 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). 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 RCV000528354 SCV000645761 benign Immunodeficiency 35 2020-12-04 criteria provided, single submitter clinical testing
OMIM RCV000528354 SCV001572334 pathogenic Immunodeficiency 35 2021-04-26 no assertion criteria provided literature only

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