ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys)

gnomAD frequency: 0.00198  dbSNP: rs61743313
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238740 SCV000296912 uncertain significance Hypercholesterolemia, familial, 1 2015-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001837787 SCV000777036 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001545271 SCV001764570 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19602640)
Ambry Genetics RCV003165673 SCV003876014 benign Cardiovascular phenotype 2023-01-06 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001545271 SCV004221663 benign not provided 2022-04-06 criteria provided, single submitter clinical testing
GENinCode PLC RCV004584641 SCV005074018 benign Familial hypercholesterolemia 2023-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541471 SCV004772067 benign APOB-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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