Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711367 | SCV000841729 | uncertain significance | not provided | 2023-04-27 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. Frequency data for this variant in the general population cannot be distinguished from that of the CYP21P pseudogene, and are therefore uninformative in assessment of variant pathogenicity (http://gnomad.broadinstitute.org). This variant has been seen in trans with other recessive pathogenic CYP21A2 variants in multiple individuals with congenital and also nonclassic forms of CAH. Assessment of experimental evidence regarding the effect of this variant on protein function is inconclusive. Results from PMID: 21521936 show a reduction in mRNA levels due to this variant, however, neither protein levels nor protein activity were assayed. This variant is also referred to by nucleotide 4397 in some published literature. |
Fulgent Genetics, |
RCV000764644 | SCV000895752 | uncertain significance | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000764644 | SCV001137084 | benign | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001725196 | SCV001959734 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000711367 | SCV001962890 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Zotz- |
RCV000764644 | SCV004099422 | pathogenic | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2023-10-30 | no assertion criteria provided | clinical testing |