ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)

gnomAD frequency: 0.00726  dbSNP: rs9657022
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029644 SCV000052296 benign Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Illumina Laboratory Services, Illumina RCV001095256 SCV000472370 uncertain significance Deficiency of steroid 11-beta-monooxygenase 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.
Illumina Laboratory Services, Illumina RCV000398212 SCV000472371 benign Glucocorticoid-remediable aldosteronism 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 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.
Invitae RCV000874015 SCV001016129 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000874015 SCV001143696 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV001095256 SCV001424538 likely benign Deficiency of steroid 11-beta-monooxygenase 2020-04-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000874015 SCV004163348 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CYP11B1: BP4, BP7, BS2

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