ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.672C>T (p.Ala224=)

gnomAD frequency: 0.00004  dbSNP: rs201252364
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272839 SCV000471341 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 RCV001559550 SCV001781797 likely benign not provided 2021-08-31 criteria provided, single submitter clinical testing
Invitae RCV001559550 SCV002382184 benign not provided 2023-07-30 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465634 SCV002605355 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 rs201252364, yet.
Fulgent Genetics, Fulgent Genetics RCV000272839 SCV002805196 benign Maturity-onset diabetes of the young type 11 2021-08-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000272839 SCV004562833 benign Maturity-onset diabetes of the young type 11 2023-08-08 criteria provided, single submitter clinical testing

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