Submissions for variant NM_001715.3(BLK):c.711C>T (p.Pro237=)

gnomAD frequency: 0.00174  dbSNP: rs143699141

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000327887	SCV000471342	likely benign	Maturity-onset diabetes of the young type 11	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.
Invitae	RCV000892392	SCV001036260	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000892392	SCV001792760	likely benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002465635	SCV002605358	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 rs143699141, yet.
CeGaT Center for Human Genetics Tuebingen	RCV000892392	SCV004164359	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	BLK: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003902413	SCV004731528	benign	BLK-related condition	2020-05-22	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000892392	SCV001798922	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000892392	SCV001927520	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000892392	SCV001973885	likely benign	not provided		no assertion criteria provided	clinical testing