ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.223C>G (p.Arg75Gly)

gnomAD frequency: 0.00057  dbSNP: rs149393791
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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 RCV000285152 SCV000471330 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001538615 SCV001756291 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001538615 SCV002356081 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538615 SCV005220524 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV003151047 SCV003839256 likely benign not specified 2022-06-22 no assertion criteria provided clinical testing

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