ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2064C>T (p.Asn688=) (rs142279332)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776529 SCV000912125 likely benign Familial hypercholesterolemias 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV000631372 SCV000752433 likely benign Familial hypercholesterolemia 2017-11-30 criteria provided, single submitter clinical testing

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