ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.39G>A (p.Lys13=)

dbSNP: rs142129056
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252110 SCV000308021 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886671 SCV001030191 benign not provided 2024-10-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001161219 SCV001323075 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001161219 SCV002048946 benign Maturity-onset diabetes of the young type 11 2021-09-13 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464153 SCV002605349 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 rs142129056, yet.
Fulgent Genetics, Fulgent Genetics RCV001161219 SCV002808457 benign Maturity-onset diabetes of the young type 11 2021-07-20 criteria provided, single submitter clinical testing

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