ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.*537del

gnomAD frequency: 0.02413  dbSNP: rs72646535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000274921 SCV000358319 likely benign Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329993 SCV000358320 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing

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