ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.116C>T (p.Pro39Leu)

gnomAD frequency: 0.00222  dbSNP: rs142352008
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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 RCV000242255 SCV000308016 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329303 SCV000471325 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.
Invitae RCV000963045 SCV001110171 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000963045 SCV001804112 likely benign not provided 2019-04-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32041611)
Genetic Services Laboratory, University of Chicago RCV000242255 SCV002071447 likely benign not specified 2021-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963045 SCV004164355 benign not provided 2023-04-01 criteria provided, single submitter clinical testing BLK: BP4, BS1, BS2
Carola Vinuesa Lab, John Curtin School of Medical Research RCV000758180 SCV000886645 benign Systemic lupus erythematosus no assertion criteria provided research

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