ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) (rs137853960)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238452 SCV000294486 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455469 SCV000539517 uncertain significance not specified 2016-08-12 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in probands, but no segregation data; ClinVar: 1 LB, 1 VUS
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985762 SCV001134252 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing
Color RCV001191123 SCV001358822 uncertain significance Familial hypercholesterolemia 2020-02-24 criteria provided, single submitter clinical testing

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