ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.287GCC[1] (p.Arg97del)

dbSNP: rs587776545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV003996076 SCV004844210 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-02-24 criteria provided, single submitter clinical testing
OMIM RCV000003014 SCV000023172 association Low density lipoprotein cholesterol level quantitative trait locus 1 2006-09-01 no assertion criteria provided literature only

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