ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.*448dup

dbSNP: rs72646533
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398663 SCV000358307 likely benign Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280163 SCV000358308 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing

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