ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.187G>A (p.Val63Met)

gnomAD frequency: 0.00302  dbSNP: rs138972988
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343718 SCV000471328 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 RCV001584087 SCV001812684 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001584087 SCV002392448 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464191 SCV002605353 likely risk allele 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 rs138972988, yet.
Breakthrough Genomics, Breakthrough Genomics RCV001584087 SCV005220522 likely benign not provided criteria provided, single submitter not provided

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