Submissions for variant NM_001715.3(BLK):c.879C>T (p.His293=)

gnomAD frequency: 0.00034  dbSNP: rs142623841

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000377639	SCV000471346	benign	Maturity-onset diabetes of the young type 11	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001563175	SCV001786066	likely benign	not provided	2020-10-02	criteria provided, single submitter	clinical testing	In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Genetic Services Laboratory, University of Chicago	RCV001821099	SCV002071449	likely benign	not specified	2018-05-21	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002465637	SCV002605360	benign	Systemic lupus erythematosus		criteria provided, single submitter	research	BLK gene is associated with Systemic lupus erythematosus, sjogren's syndrome and other systemic inflammatory conditions. However no sufficient evidence is found to ascertain the role of this particular variant rs142623841, yet.
CeGaT Center for Human Genetics Tuebingen	RCV001563175	SCV004164363	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	BLK: BS1, BS2
Invitae	RCV001563175	SCV004460750	benign	not provided	2023-12-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001563175	SCV001926671	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001563175	SCV001968011	likely benign	not provided		no assertion criteria provided	clinical testing