ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.176-104G>A

gnomAD frequency: 0.90656  dbSNP: rs6994605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554071 SCV001775230 benign Maturity-onset diabetes of the young type 11 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713133 SCV001945374 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464470 SCV002605350 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 rs6994605, yet.

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