Submissions for variant NM_000384.3(APOB):c.293C>T (p.Thr98Ile)

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116386	SCV000303938	likely benign	not specified		criteria provided, single submitter	clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000256320	SCV000322824	benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV000324495	SCV000427186	likely benign	Familial hypobetalipoproteinemia 1	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001094606	SCV000427187	likely benign	Hypercholesterolemia, autosomal dominant, type B	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000116386	SCV000519342	benign	not specified	2016-10-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000256320	SCV000588412	benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Color Diagnostics, LLC DBA Color Health	RCV000256320	SCV000687224	benign	Hypercholesterolemia, familial, 1	2017-06-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837457	SCV001728419	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001094606	SCV001774908	benign	Hypercholesterolemia, autosomal dominant, type B	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000324495	SCV001774909	benign	Familial hypobetalipoproteinemia 1	2021-07-14	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV000771030	SCV002524050	benign	Familial hypercholesterolemia	2022-06-06	criteria provided, single submitter	clinical testing	ACMG Guidelines, 2015; BA1-Allele frequency is >5% in GnomAD_exome
Ambry Genetics	RCV002433606	SCV002747825	benign	Cardiovascular phenotype	2015-12-10	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GENinCode PLC	RCV000771030	SCV005074080	benign	Familial hypercholesterolemia	2022-06-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001356976	SCV005262652	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116386	SCV000150310	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Pharmacogenomics Lab, Chungbuk National University	RCV000845576	SCV000889941	drug response	Warfarin response	2010-08-31	no assertion criteria provided	research	In patients receiving warfarin after mechanical valve replacement, A allele carriers of rs1367117 had 8.6 times increased risk of bleeding.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356976	SCV001552285	uncertain significance	not provided		no assertion criteria provided	clinical testing	multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 33.711% in TwinsUk) based on the frequency threshold of 1.253% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.
Clinical Genetics, Academic Medical Center	RCV000116386	SCV001918625	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116386	SCV001962868	benign	not specified		no assertion criteria provided	clinical testing