Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000894918 | SCV001038933 | likely benign | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001294156 | SCV001482981 | uncertain significance | Trichothiodystrophy 2, photosensitive | 2018-12-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003958021 | SCV004768992 | likely benign | ERCC3-related condition | 2019-12-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV000894918 | SCV001926563 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000894918 | SCV001972224 | likely benign | not provided | no assertion criteria provided | clinical testing |