ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2914G>A (p.Gly972Ser) (rs199893862)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455088 SCV000538331 uncertain significance not specified 2016-06-16 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: Identified in 3 members of 1 family
Color RCV000771612 SCV000904216 uncertain significance Familial hypercholesterolemia 2019-08-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997071 SCV001152164 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing

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