Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172595 | SCV000051426 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000154856 | SCV000204538 | benign | not specified | 2020-09-22 | criteria provided, single submitter | clinical testing | The p.Thr229Ile variant in TMPO is classified as benign because it has been identified in 2% (639/30780) of South Asian chromosomes, including 10 homozygotes, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. |
Invitae | RCV001080218 | SCV000646400 | benign | Loeys-Dietz syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312687 | SCV000736465 | benign | Inborn genetic diseases | 2017-11-03 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
ARUP Laboratories, |
RCV000172595 | SCV000884702 | benign | not provided | 2020-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172595 | SCV001884793 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |