ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9140C>G (p.Thr3047Arg) (rs61742323)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086877 SCV000777064 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000776517 SCV000912113 likely benign Familial hypercholesterolemia 2018-03-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000655139 SCV001133429 benign not provided 2019-06-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139542 SCV001299711 uncertain significance Hypobetalipoproteinemia, familial, 1 2018-07-18 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.
Illumina Clinical Services Laboratory,Illumina RCV001139543 SCV001299712 benign Familial hypercholesterolemia 2 2018-07-18 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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