ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.2311+11G>C

gnomAD frequency: 0.11734  dbSNP: rs12720299
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126194 SCV000169689 benign not specified 2013-09-27 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 RCV000126194 SCV000309570 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329556 SCV000410286 benign Immunodeficiency 35 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000329556 SCV001731779 benign Immunodeficiency 35 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000329556 SCV002514853 benign Immunodeficiency 35 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000126194 SCV004232886 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 20% of patients studied by a panel of primary immunodeficiencies. Number of patients: 19. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004717038 SCV005311956 benign not provided criteria provided, single submitter not provided

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