ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.-6C>T

gnomAD frequency: 0.00673  dbSNP: rs199891090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173170 SCV000224263 benign not specified 2015-01-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294686 SCV000427460 uncertain significance Cholestanol storage disease 2018-01-12 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.
GeneDx RCV001682882 SCV001900945 benign not provided 2020-02-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000294686 SCV002076358 benign Cholestanol storage disease 2019-10-18 no assertion criteria provided clinical testing

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