ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) (rs774698247)

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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 RCV000211700 SCV000295931 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Color Health, Inc RCV000776247 SCV000911499 likely benign Familial hypercholesterolemia 2020-01-23 criteria provided, single submitter clinical testing
Invitae RCV000776247 SCV001012665 benign Familial hypercholesterolemia 2020-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284645 SCV001470535 likely benign not provided 2020-08-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000211700 SCV001716358 benign Familial hypercholesterolemia 1 2021-05-18 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211700 SCV000268662 uncertain significance Familial hypercholesterolemia 1 2010-04-13 no assertion criteria provided clinical testing

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