ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1194C>T (p.Ile398=) (rs13306498)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000210233 SCV000266323 likely benign Familial hypercholesterolemia 2016-08-31 criteria provided, single submitter research MAF =<0.3%
Color RCV000210233 SCV000689759 benign Familial hypercholesterolemia 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV000210233 SCV000556771 benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000210233 SCV000295287 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000210233 SCV000583803 likely pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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