Submissions for variant NM_001715.3(BLK):c.211G>A (p.Ala71Thr)

gnomAD frequency: 0.01485  dbSNP: rs55758736

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116496	SCV000150438	likely benign	not specified	2013-07-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116496	SCV000308018	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000013112	SCV000471329	benign	Maturity-onset diabetes of the young type 11	2018-03-06	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.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445395	SCV000537051	benign	Monogenic diabetes	2017-03-03	criteria provided, single submitter	research	ACMG Criteria:BP4 (6 predictors), PP3 (4 predictors), BS1 (2.5% in African 1.6% in European in 1000g), BS2 (about equal cases and controls in type2diabetesgenetics.org), PS3 (functional studies show effect)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000116496	SCV000538413	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx	RCV001521947	SCV000582792	benign	not provided	2018-09-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22696686, 20981092, 26821283, 23261300, 22995991, 25333069, 19667185, 23224494, 27884173, 31101814, 32028929)
Invitae	RCV001521947	SCV001731387	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001521947	SCV002586218	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	BLK: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV000013112	SCV002794593	likely benign	Maturity-onset diabetes of the young type 11	2021-10-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000013112	SCV003800468	benign	Maturity-onset diabetes of the young type 11	2023-11-29	criteria provided, single submitter	clinical testing
OMIM	RCV000013112	SCV000033359	pathogenic	Maturity-onset diabetes of the young type 11	2009-08-25	no assertion criteria provided	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000116496	SCV001800257	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116496	SCV001928986	benign	not specified		no assertion criteria provided	clinical testing