ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2205C>T (p.Ala735=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV001178329 SCV001342735 likely benign Familial hypercholesterolemia 2018-11-14 criteria provided, single submitter clinical testing
Invitae RCV001178329 SCV001597892 likely benign Familial hypercholesterolemia 2019-11-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001178329 SCV001465010 uncertain significance Familial hypercholesterolemia 2020-08-13 no assertion criteria provided clinical testing

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