ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.-1-105C>G

gnomAD frequency: 0.55690  dbSNP: rs12386974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554068 SCV001775227 benign Maturity-onset diabetes of the young type 11 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001595107 SCV001828731 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465886 SCV002605346 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 rs12386974, yet.
Breakthrough Genomics, Breakthrough Genomics RCV001595107 SCV005272354 benign not provided criteria provided, single submitter not provided

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