ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.693A>G (p.Ala231=)

dbSNP: rs1644684348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183164 SCV001348821 likely benign Familial hypercholesterolemia 2019-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068350 SCV002331829 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-01-04 criteria provided, single submitter clinical testing

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