ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu) (rs544521341)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000660711 SCV000782900 uncertain significance Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001142062 SCV001302460 likely benign Familial hypercholesterolemia 2 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 Clinical Services Laboratory,Illumina RCV001142063 SCV001302461 uncertain significance Hypobetalipoproteinemia, familial, 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 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.
Color Health, Inc RCV001182730 SCV001348287 likely benign Familial hypercholesterolemia 2018-11-27 criteria provided, single submitter clinical testing
Invitae RCV001405866 SCV001607806 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-11-11 criteria provided, single submitter clinical testing

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