ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1355-56C>T

gnomAD frequency: 0.82748  dbSNP: rs585131
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Total submissions: 3
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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 RCV000256260 SCV000323066 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004713470 SCV005286628 benign not provided criteria provided, single submitter not provided
Phenosystems SA RCV002463442 SCV002757889 pathogenic Short fetal femur length no assertion criteria provided clinical testing

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