Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622864 | SCV000742719 | pathogenic | Inborn genetic diseases | 2017-07-03 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671085 | SCV000796027 | pathogenic | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B | 2017-11-30 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000733375 | SCV000861440 | pathogenic | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000784896 | SCV000923433 | pathogenic | Cockayne syndrome B | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000733375 | SCV001219828 | pathogenic | not provided | 2019-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1288*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs185142838, ExAC 0.09%). This variant has been observed to segregate with clinical features of Cockayne and Cerebrooculofacioskeletal syndrome in a family and has been observed in individuals with this condition (PMID: 20456449, 29572252, 19894250). ClinVar contains an entry for this variant (Variation ID: 31578). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000024284 | SCV000045575 | pathogenic | Cerebrooculofacioskeletal syndrome 1 | 2010-12-01 | no assertion criteria provided | literature only | |
Service de Génétique Moléculaire, |
RCV000784896 | SCV001432393 | pathogenic | Cockayne syndrome B | no assertion criteria provided | clinical testing |