ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1681+64G>A

gnomAD frequency: 0.62233  dbSNP: rs483462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256318 SCV000323073 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004714629 SCV005286633 benign not provided criteria provided, single submitter not provided

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