ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1570G>C (p.Ala524Pro)

dbSNP: rs746457760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262589 SCV001440517 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2019-01-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001262589 SCV005431423 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2024-09-23 criteria provided, single submitter clinical testing

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