ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)

dbSNP: rs150312765
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837942 SCV001004600 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-01-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV001186472 SCV001352906 benign Familial hypercholesterolemia 2018-11-27 criteria provided, single submitter clinical testing
GeneDx RCV002264949 SCV002546641 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing Has not been previously published in association with APOB-related disorders to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 440517); This variant is associated with the following publications: (PMID: 32719484)
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508749 SCV000605957 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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