Submissions for variant NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=)

gnomAD frequency: 0.00234  dbSNP: rs61734350

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000652157	SCV000774025	benign	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000652157	SCV001282069	likely benign	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	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.
CeGaT Center for Human Genetics Tuebingen	RCV001531455	SCV001746562	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	IL12RB1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001531455	SCV001927420	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001531455	SCV001968932	likely benign	not provided		no assertion criteria provided	clinical testing