Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome |
RCV001249391 | SCV001423387 | not provided | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | no assertion provided | phenotyping only | Variant interpretted as Pathogenic and reported on 12-04-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |