ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.870C>T (p.Leu290=)

gnomAD frequency: 0.00003  dbSNP: rs202136743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001395430 SCV001597140 likely benign Cholestanol storage disease 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377594 SCV002684153 likely benign Cardiovascular phenotype 2022-07-10 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.
Clinical Genetics, Academic Medical Center RCV001796477 SCV002034532 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796476 SCV002036362 likely benign not provided no assertion criteria provided clinical testing

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