Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000971335 | SCV001118976 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001124316 | SCV001283253 | likely benign | Glucocorticoid deficiency 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Clinical Molecular Genetics Laboratory, |
RCV000581582 | SCV000692307 | uncertain significance | Glucocorticoid Deficiency | 2017-01-06 | no assertion criteria provided | clinical testing |