ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.674C>T (p.Pro225Leu)

gnomAD frequency: 0.00230  dbSNP: rs144592409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597850 SCV000705469 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000597850 SCV001040083 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000597850 SCV001766394 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117363 SCV003800583 likely benign Maturity-onset diabetes of the young type 11 2023-09-22 criteria provided, single submitter clinical testing

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