ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.472+12G>A

gnomAD frequency: 0.00652  dbSNP: rs145058498
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244109 SCV000308022 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370532 SCV000471337 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 RCV001582818 SCV001813913 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001582818 SCV002424485 benign not provided 2024-11-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465606 SCV002605356 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 rs145058498, yet.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000370532 SCV004563205 benign Maturity-onset diabetes of the young type 11 2023-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001582818 SCV005220527 likely benign not provided criteria provided, single submitter not provided

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