ClinVar Miner

Submissions for variant NM_000078.3(CETP):c.1321+1G>A

gnomAD frequency: 0.00002  dbSNP: rs5742907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000019076 SCV002017038 pathogenic Hyperalphalipoproteinemia 1 2023-10-30 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000019076 SCV005442014 likely pathogenic Hyperalphalipoproteinemia 1 2024-12-19 criteria provided, single submitter clinical testing
OMIM RCV000019076 SCV000039363 pathogenic Hyperalphalipoproteinemia 1 1990-11-01 no assertion criteria provided literature only

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