ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu)

gnomAD frequency: 0.03600  dbSNP: rs115116507
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250923 SCV000306660 benign not specified criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445370 SCV000537085 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BA1 (14% in Africans, seen in previous cases, similar freq in Today/1000g), BS2 (22 homozygotes in ExAC)= benign (REVEL 0.224 and 7 predictors/BP4: conflicing evidence, not using)
Athena Diagnostics RCV000250923 SCV000612494 benign not specified 2017-07-19 criteria provided, single submitter clinical testing
GeneDx RCV001597005 SCV001832186 benign not provided 2018-08-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597005 SCV005316741 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000250923 SCV002034715 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001597005 SCV002035482 likely benign not provided no assertion criteria provided clinical testing

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