ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4157G>A (p.Arg1386Gln)

gnomAD frequency: 0.00006  dbSNP: rs145007060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001869102 SCV002248550 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540094 SCV004758238 likely benign APOB-related disorder 2023-06-30 criteria provided, single submitter 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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