Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome |
RCV001265256 | SCV001443372 | pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2018-03-13 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-03-13 and interpreted as Pathogenic. Variant was initially reported on 2013-12-20 by GTR ID of laboratory name Telemark Hospital . The reporting laboratory might also submit to ClinVar. |