ClinVar Miner

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

dbSNP: rs774698247
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Total submissions: 8
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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 Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Color Diagnostics, LLC DBA Color Health RCV000776247 SCV000911499 likely benign Familial hypercholesterolemia 2020-01-23 criteria provided, single submitter clinical testing
Invitae RCV000776247 SCV001012665 benign Familial hypercholesterolemia 2024-01-21 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
Genome-Nilou Lab RCV000211700 SCV001716358 benign Hypercholesterolemia, familial, 1 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001284645 SCV002504162 likely benign not provided 2018-07-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211700 SCV000268662 uncertain significance Hypercholesterolemia, familial, 1 2010-04-13 no assertion criteria provided clinical testing
Natera, Inc. RCV000776247 SCV002086872 likely benign Familial hypercholesterolemia 2020-01-31 no assertion criteria provided clinical testing

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