ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-97G>A (rs944580031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776578 SCV000912191 likely benign Familial hypercholesterolemias 2018-03-23 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille RCV000495878 SCV000583620 likely pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing ACMG Guidelines: Likely Pathogenic (ii)

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