ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1060+40G>A

gnomAD frequency: 0.00260  dbSNP: rs192390193
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238371 SCV000295181 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000238371 SCV000987018 likely benign Hypercholesterolemia, familial, 1 2019-02-08 criteria provided, single submitter clinical testing Due to the current estimates of databases (LOVD 3), this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV000238371 SCV002795885 likely benign Hypercholesterolemia, familial, 1 2022-05-20 criteria provided, single submitter clinical testing
Invitae RCV002518482 SCV003476113 benign Familial hypercholesterolemia 2023-07-17 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238371 SCV000606307 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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