ClinVar Miner

Submissions for variant NM_000941.3(POR):c.15A>G (p.Gly5=) (rs10262966)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001095154 SCV000470000 benign Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000018413 SCV001137390 benign Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001504 SCV001158805 benign not specified 2018-09-05 criteria provided, single submitter clinical testing
OMIM RCV000018413 SCV000038695 pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 2005-01-01 no assertion criteria provided literature only

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