ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup) (rs745520533)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489214 SCV000576643 uncertain significance not specified 2017-04-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the APOB gene. The c.61_66dupCTGCTG variant has notbeen published as pathogenic or been reported as benign to our knowledge. The c.61_66dupCTGCTG variant resultsin an in-frame duplication of two leucine (L) residues, denoted p.Leu21_Leu22dup. However, no in-frame duplicationsin the APOB gene have been reported in the Human Gene Mutation Database in association withhypercholesterolemia (Stenson et al., 2014). Additionally, data from control individuals was not sufficient to assesswhether c.61_66dupCTGCTG may be a common benign variant in the general population.
Invitae RCV001080798 SCV000659293 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-11-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000535996 SCV001133413 benign not provided 2018-11-09 criteria provided, single submitter clinical testing

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