Submissions for variant NM_001715.3(BLK):c.713G>A (p.Arg238Gln)

gnomAD frequency: 0.00300  dbSNP: rs141865425

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193830	SCV000246798	benign	not specified	2021-05-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000193830	SCV000308023	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363851	SCV000471343	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001569478	SCV001793563	likely benign	not provided	2020-10-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31101814, 28766502)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001569478	SCV002417899	likely benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000363851	SCV003799908	benign	Maturity-onset diabetes of the young type 11	2023-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001569478	SCV004164360	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ENSG00000269954: BS2
Carola Vinuesa Lab, John Curtin School of Medical Research	RCV000758183	SCV000886648	pathogenic	Systemic lupus erythematosus		no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001569478	SCV001927056	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001569478	SCV001971503	likely benign	not provided		no assertion criteria provided	clinical testing