ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1499C>T (p.Ala500Val)

gnomAD frequency: 0.26722  dbSNP: rs1057868
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251974 SCV000305587 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405449 SCV000470027 benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2018-03-06 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001640493 SCV001158729 benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Pecori Giraldi Lab, University of Milan RCV001292550 SCV001432706 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency criteria provided, single submitter case-control
Labcorp Genetics (formerly Invitae), Labcorp RCV000405449 SCV001718392 benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001640493 SCV001859527 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26227094, 26123203, 16467261, 18230729, 24113216, 19801957, 22547083, 20940534, 20697309, 18551037, 17635179, 20732302)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000251974 SCV002051411 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640493 SCV005220402 likely benign not provided criteria provided, single submitter not provided

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