ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.49CTG[5] (p.Leu22del)

dbSNP: rs745520533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837535 SCV001726802 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368547 SCV002661188 benign Cardiovascular phenotype 2019-05-22 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.
GENinCode PLC RCV004584917 SCV005074084 benign Familial hypercholesterolemia 2024-02-29 criteria provided, single submitter clinical testing

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