Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711390 | SCV000841753 | pathogenic | not provided | 2016-06-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000012938 | SCV000893710 | pathogenic | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Myriad Women's Health, |
RCV000012938 | SCV001194148 | pathogenic | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2019-12-17 | criteria provided, single submitter | clinical testing | NM_000500.7(CYP21A2):c.92C>T(P31L) is classified as pathogenic in the context of congenital adrenal hyperplasia, CYP21A2-related and is associated with the non-classic form of disease. Sources cited for classification include the following: PMID 23142378, 16427797, 23359698, 1644925, 2072928 and 9215318. Classification of NM_000500.7(CYP21A2):c.92C>T(P31L) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. |
Clinical Genetics Karolinska University Hospital, |
RCV000711390 | SCV001449882 | pathogenic | not provided | 2017-02-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000012938 | SCV000033179 | pathogenic | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1997-07-01 | no assertion criteria provided | literature only | |
Gene |
RCV000012938 | SCV000086805 | pathologic | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2013-08-29 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Foundation for Research in Genetics and Endocrinology, |
RCV000012938 | SCV000590901 | pathogenic | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2017-07-28 | no assertion criteria provided | clinical testing | This variant has been reported in 1000 genomes database, dbSNP(rs9378251) and HGMD. The in silico prediction of this variant is disease-causing by MutationTaster. |