ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.799+5G>C

gnomAD frequency: 0.00006  dbSNP: rs193922542
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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 RCV000029649 SCV000052301 uncertain Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Athena Diagnostics RCV000517998 SCV000613042 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing
Counsyl RCV000665430 SCV000789551 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2017-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504827 SCV002816677 uncertain significance Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-05-17 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000665430 SCV004190265 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-11-20 criteria provided, single submitter clinical testing ACMG:PVS1 PM2 PM3
Baylor Genetics RCV000665430 SCV004215341 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952372 SCV004770055 likely pathogenic CYP11B1-related disorder 2023-11-06 criteria provided, single submitter clinical testing The CYP11B1 c.799+5G>C variant is predicted to interfere with splicing. This variant was reported in the compound heterozygous state with a nonsense CYP11B1 variant in an individual with congenital adrenal hyperplasia due to 11-ß-hydroxylase deficiency (Andrew et al. 2007. PubMed ID: 17371482). This variant, along with a CYP11B1 nonsense variant, was also documented in an individual with congenital adrenal hyperplasia at PreventionGenetics (internal data). This variant is reported in 0.048% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-143958093-C-G). This variant is interpreted as likely pathogenic.

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