ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.792G>A (p.Val264=) (rs144018609)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000284553 SCV000340909 benign not specified 2016-03-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265806 SCV000427471 uncertain significance Cholestanol storage disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000265806 SCV001065456 benign Cholestanol storage disease 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000265806 SCV001462722 likely benign Cholestanol storage disease 2020-04-25 no assertion criteria provided clinical testing

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