ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.168T>C (p.Tyr56=)

gnomAD frequency: 0.00001  dbSNP: rs761116238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608784 SCV000732219 likely benign not specified 2017-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001180278 SCV001345161 likely benign Familial hypercholesterolemia 2018-12-31 criteria provided, single submitter clinical testing
Invitae RCV002066846 SCV002382785 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413771 SCV002715370 likely benign Cardiovascular phenotype 2020-06-29 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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