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

gnomAD frequency: 0.02850  dbSNP: rs34536443

Total submissions: 7

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, part of Exact Sciences	RCV000126195	SCV000309572	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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	2024-01-31	criteria provided, single submitter	clinical testing
OMIM	RCV000528354	SCV001572334	pathogenic	Immunodeficiency 35	2021-04-26	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701518	SCV001927176	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000126195	SCV001954421	benign	not specified		no assertion criteria provided	clinical testing