ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.1030-38C>T

gnomAD frequency: 0.38972  dbSNP: rs4841561
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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 RCV001554072 SCV001775233 benign Maturity-onset diabetes of the young type 11 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001685517 SCV001903657 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465887 SCV002605359 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 rs4841561, yet.
Breakthrough Genomics, Breakthrough Genomics RCV001685517 SCV005272383 benign not provided criteria provided, single submitter not provided

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