ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.606A>T (p.Glu202Asp)

gnomAD frequency: 0.00387  dbSNP: rs61746672
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224609 SCV000280710 likely benign not provided 2016-02-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001837764 SCV000554821 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000582471 SCV000782869 likely benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776106 SCV000910950 benign Familial hypercholesterolemia 2018-06-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224609 SCV001469945 benign not provided 2020-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000224609 SCV001916770 benign not provided 2020-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224609 SCV002544005 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing APOB: BP4
Ambry Genetics RCV002354625 SCV002657700 benign Cardiovascular phenotype 2017-02-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224609 SCV004564694 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing

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