Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000252481 | SCV000304565 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular Medicine, |
RCV000252481 | SCV000540566 | benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Athena Diagnostics Inc | RCV000055819 | SCV000677266 | benign | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2017-04-13 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000024069 | SCV000045360 | benign | 21-HYDROXYLASE POLYMORPHISM | 1991-08-01 | no assertion criteria provided | literature only | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029655 | SCV000052307 | not provided | Congenital adrenal hyperplasia | 2015-10-02 | no assertion provided | clinical testing | |
Gene |
RCV000055819 | SCV000086801 | not provided | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | no assertion provided | literature only | ||
Diagnostic Laboratory, |
RCV001529036 | SCV001741812 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000252481 | SCV001955180 | benign | not specified | no assertion criteria provided | clinical testing |