ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.-13A>G

gnomAD frequency: 0.00002  dbSNP: rs376011618
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237905 SCV000294403 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237905 SCV000322869 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Color Diagnostics, LLC DBA Color Health RCV001186035 SCV001352365 likely benign Familial hypercholesterolemia 2017-09-18 criteria provided, single submitter clinical testing
Invitae RCV001186035 SCV002322565 likely benign Familial hypercholesterolemia 2023-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947809 SCV004758487 likely benign LDLR-related disorder 2019-12-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237905 SCV000605989 uncertain significance Hypercholesterolemia, familial, 1 no assertion criteria provided research

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