ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9810C>T (p.Phe3270=)

gnomAD frequency: 0.00027  dbSNP: rs138010392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837993 SCV000659308 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284272 SCV001469957 likely benign not provided 2020-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384272 SCV002694996 likely benign Cardiovascular phenotype 2017-02-27 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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