Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192403 | SCV000246748 | likely benign | not specified | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000864761 | SCV001005610 | likely benign | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415820 | SCV002720103 | likely benign | Inborn genetic diseases | 2022-02-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Genome- |
RCV003126575 | SCV003801985 | likely benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126576 | SCV003801986 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003126576 | SCV004016168 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing |