ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.1349G>A (p.Arg450His)

gnomAD frequency: 0.00022  dbSNP: rs202162624
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397116 SCV000471355 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 RCV001547490 SCV001767209 likely benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001547490 SCV002423176 benign not provided 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001547490 SCV004164367 benign not provided 2022-03-01 criteria provided, single submitter clinical testing BLK: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001547490 SCV005220533 likely benign not provided criteria provided, single submitter not provided

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