ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13095C>T (p.Asn4365=)

gnomAD frequency: 0.00005  dbSNP: rs13306203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583034 SCV000687205 likely benign Hypercholesterolemia, familial, 1 2017-09-20 criteria provided, single submitter clinical testing
Invitae RCV001837998 SCV001011572 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384277 SCV002694291 likely benign Cardiovascular phenotype 2022-09-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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