ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.2250C>T (p.Gly750=)

gnomAD frequency: 0.00093  dbSNP: rs138652649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719993 SCV000515213 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Invitae RCV000645237 SCV000766979 benign Immunodeficiency 35 2021-12-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000645237 SCV001282382 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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