ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.658-7C>T

gnomAD frequency: 0.45035  dbSNP: rs2483205
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030351 SCV000053018 benign Hypercholesterolemia, familial, 1 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences RCV000252912 SCV000316578 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000030351 SCV000323050 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000300438 SCV000358231 benign Hypobetalipoproteinemia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000604185 SCV000358232 benign Hypercholesterolemia, autosomal dominant, 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000252912 SCV000519557 benign not specified 2016-09-28 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.
Color Diagnostics, LLC DBA Color Health RCV000030351 SCV000690986 benign Hypercholesterolemia, familial, 1 2017-06-22 criteria provided, single submitter clinical testing
Iberoamerican FH Network RCV000030351 SCV000748067 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000604185 SCV001721902 benign Hypercholesterolemia, autosomal dominant, 3 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000604185 SCV002029468 benign Hypercholesterolemia, autosomal dominant, 3 2021-09-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811219 SCV002049337 benign not provided 2024-11-27 criteria provided, single submitter clinical testing
GENinCode PLC RCV003148637 SCV005077871 benign Familial hypercholesterolemia 2022-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811219 SCV005286625 benign not provided criteria provided, single submitter not provided
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000030351 SCV000606693 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604185 SCV000734039 benign Hypercholesterolemia, autosomal dominant, 3 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000252912 SCV001923670 benign not specified no assertion criteria provided clinical testing
Phenosystems SA RCV002463432 SCV002757887 uncertain significance Short fetal femur length no assertion criteria provided clinical testing
Cohesion Phenomics RCV003148637 SCV003836777 benign Familial hypercholesterolemia 2023-02-09 no assertion criteria provided clinical testing

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