Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229649 | SCV000291920 | benign | Dyskeratosis congenita, autosomal dominant 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000421480 | SCV000514876 | benign | not specified | 2016-04-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001699177 | SCV000605357 | benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000421480 | SCV000711359 | benign | not specified | 2017-12-26 | criteria provided, single submitter | clinical testing | c.58G>A in TERC: This variant is not expected to have clinical significance beca use it has been identified in 5.6% (1269/22484) of African chromosomes by the Ge nome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs113 4787931). In addition, in vitro functional assays of telomerase activity show no loss of function with this variant (Ly 2003, Marrone 2004). ACMG/AMP Criteria a pplied: BA1, BS3. |
Fulgent Genetics, |
RCV002490336 | SCV002797350 | likely benign | Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 2022-04-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007747 | SCV000027948 | pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 2002-06-22 | no assertion criteria provided | literature only | |
Gene |
RCV000032580 | SCV000056253 | pathologic | Aplastic anemia | 2012-05-10 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Genome Diagnostics Laboratory, |
RCV001699177 | SCV001926646 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001699177 | SCV001956296 | likely benign | not provided | no assertion criteria provided | clinical testing |