ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.-115C>G

dbSNP: rs1800480
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Total submissions: 2
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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 RCV000256258 SCV000322820 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV001094609 SCV000427199 likely benign Hypercholesterolemia, autosomal dominant, type B 2018-04-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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