ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1423G>A (p.Ala475Thr)

gnomAD frequency: 0.00001  dbSNP: rs773699134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775284 SCV000909543 likely benign Familial hypercholesterolemia 2020-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001408612 SCV001610614 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001408612 SCV002802158 likely benign Hypercholesterolemia, autosomal dominant, 3 2021-07-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001408612 SCV004834645 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-11-02 criteria provided, single submitter clinical testing

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