ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7729A>C (p.Met2577Leu)

gnomAD frequency: 0.00003  dbSNP: rs200231583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838205 SCV001695006 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397553 SCV002669924 benign Cardiovascular phenotype 2021-11-20 criteria provided, single submitter clinical testing This alteration is classified as 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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