ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12310C>A (p.Leu4104Met)

dbSNP: rs199668351
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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 RCV000343227 SCV000426920 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001837834 SCV000554832 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-29 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000343227 SCV000782804 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000461857 SCV001133390 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365398 SCV002664703 likely benign Cardiovascular phenotype 2020-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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