Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162501 | SCV000212889 | likely benign | Hereditary cancer-predisposing syndrome | 2013-06-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Invitae | RCV000162501 | SCV000252798 | benign | Hereditary cancer-predisposing syndrome | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410959 | SCV000488540 | benign | Ataxia-telangiectasia-like disorder 1 | 2016-06-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588749 | SCV000698607 | benign | not provided | 2016-05-06 | criteria provided, single submitter | clinical testing | Variant summary: The c.315-4dupT variant affects a non-conserved intronic nucleotide. MutationTaster predicts benign outcome for this variant. 5/5 splice-tools in Alamut predict that this variant does not affect normal splicing. This variant is found in 6069/84106 control chromosomes (including 57 homozygotes) from ExAC at a frequency of 0.0721589, which is about 1155 times greater than the maximal expected frequency of a pathogenic allele (0.0000625) in this gene, suggesting this variant is benign. In addition, two clinical laboratory/reputable database have classified this variant as benign/likely benign. Taken together, this variant has been classified as Benign. |
Invitae | RCV001081372 | SCV001000503 | benign | Ataxia-telangiectasia-like disorder | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288239 | SCV001475210 | benign | not specified | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162501 | SCV002538421 | benign | Hereditary cancer-predisposing syndrome | 2020-03-03 | criteria provided, single submitter | curation | |
Genome Diagnostics Laboratory, |
RCV000588749 | SCV001932967 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001288239 | SCV001973093 | benign | not specified | no assertion criteria provided | clinical testing |