ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6936C>T (p.Asp2312=)

gnomAD frequency: 0.38695  dbSNP: rs1041968
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837538 SCV001731087 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553833 SCV001774902 benign Hypercholesterolemia, autosomal dominant, type B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553834 SCV001774903 benign Familial hypobetalipoproteinemia 1 2021-07-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810748 SCV002048880 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368549 SCV002664333 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 RCV002287899 SCV005074048 benign Familial hypercholesterolemia 2022-06-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001810748 SCV005245228 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528490 SCV001740314 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001528490 SCV001925497 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV002287899 SCV002578242 benign Familial hypercholesterolemia 2022-09-19 no assertion criteria provided clinical testing

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