ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr)

gnomAD frequency: 0.00003  dbSNP: rs531273434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256279 SCV000322849 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/192 non-FH alleles
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455575 SCV000538329 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Published in 1 paper, classified as polymorphism
Labcorp Genetics (formerly Invitae), Labcorp RCV001837816 SCV000953278 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-15 criteria provided, single submitter clinical testing

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