ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1060+10_1060+11delinsCA

dbSNP: rs2077364942
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186165 SCV001352516 likely benign Familial hypercholesterolemia 2019-09-25 criteria provided, single submitter clinical testing
Invitae RCV001186165 SCV001675746 likely benign Familial hypercholesterolemia 2023-11-28 criteria provided, single submitter clinical testing

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