Submissions for variant NM_003331.5(TYK2):c.44T>C (p.Val15Ala)

gnomAD frequency: 0.00069  dbSNP: rs144960992

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001082832	SCV000410315	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000482893	SCV000573526	likely benign	not provided	2020-12-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28182501, 22675565, 23471820, 32297440, 28694182, 32707200)
Invitae	RCV001082832	SCV000766978	benign	Immunodeficiency 35	2024-01-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000482893	SCV001930268	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000482893	SCV001967275	likely benign	not provided		no assertion criteria provided	clinical testing