ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys)

gnomAD frequency: 0.00025  dbSNP: rs574725520
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454787 SCV000538322 uncertain significance not specified 2016-03-28 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: 1 paper, no segs, ExAC: 0.2% (28/16492) South Asian chromosomes
Eurofins Ntd Llc (ga) RCV000726680 SCV000702087 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001837900 SCV000777054 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-06-12 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000660710 SCV000782899 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000454787 SCV004813566 likely benign not specified 2024-02-28 criteria provided, single submitter clinical testing

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