ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.102C>T (p.Asp34=)

gnomAD frequency: 0.00743  dbSNP: rs75383960
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116495 SCV000150437 benign not specified 2017-08-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116495 SCV000308015 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274248 SCV000471324 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.
Invitae RCV000887414 SCV001030970 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000887414 SCV001873390 benign not provided 2020-02-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464110 SCV002605348 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 rs75383960, yet.
Fulgent Genetics, Fulgent Genetics RCV000274248 SCV002803576 likely benign Maturity-onset diabetes of the young type 11 2021-07-19 criteria provided, single submitter clinical testing

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