ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)

gnomAD frequency: 0.00014  dbSNP: rs151193009
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471381 SCV000555881 benign Hypercholesterolemia, autosomal dominant, 3 2024-01-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584672 SCV000690979 likely benign Hypercholesterolemia, familial, 1 2017-10-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000471381 SCV001257718 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2018-05-03 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284673 SCV001470592 benign not specified 2020-06-13 criteria provided, single submitter clinical testing
GeneDx RCV002225622 SCV002504234 likely benign not provided 2019-09-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001284673 SCV002572384 likely benign not specified 2022-08-27 criteria provided, single submitter clinical testing
New York Genome Center RCV000471381 SCV002764495 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2021-12-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000471381 SCV004844188 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-01-11 criteria provided, single submitter clinical testing

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