ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2184T>C (p.Asp728=)

dbSNP: rs1325443043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Iberoamerican FH Network RCV000627185 SCV000748122 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Ambry Genetics RCV002431835 SCV002730503 likely benign Cardiovascular phenotype 2019-07-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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