ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr)

gnomAD frequency: 0.00023  dbSNP: rs141982176
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281946 SCV000426979 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318387 SCV000426980 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001837843 SCV001131944 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284732 SCV001470678 uncertain significance not provided 2020-05-07 criteria provided, single submitter clinical testing

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