ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12699G>A (p.Ser4233=)

gnomAD frequency: 0.00136  dbSNP: rs56675344
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837969 SCV000659263 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283871 SCV001469329 benign not specified 2020-06-13 criteria provided, single submitter clinical testing
GeneDx RCV001584363 SCV001819774 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377192 SCV002685173 likely benign Cardiovascular phenotype 2019-03-20 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.
PreventionGenetics, part of Exact Sciences RCV004543253 SCV004770921 likely benign APOB-related disorder 2021-11-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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