ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) (rs35018800)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000284384 SCV000340763 likely benign not specified 2016-04-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513917 SCV000609889 likely benign not provided 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV001085272 SCV000766987 benign Immunodeficiency 35 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000513917 SCV000970887 likely benign not provided 2017-08-28 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513917 SCV001249693 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085272 SCV001284618 likely benign Immunodeficiency 35 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001085272 SCV001448819 likely benign Immunodeficiency 35 2017-11-10 criteria provided, single submitter clinical testing

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