ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter)

gnomAD frequency: 0.00001  dbSNP: rs935792706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329227 SCV001520604 uncertain significance Familial hypobetalipoproteinemia 1 2019-09-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001329227 SCV004807856 uncertain significance Familial hypobetalipoproteinemia 1 2024-03-29 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028060 SCV001190836 pathogenic Hypercholesterolemia, familial, 1 2020-02-05 no assertion criteria provided clinical testing

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