Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New Leaf Center | RCV000984531 | SCV001132589 | likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 2019-04-30 | no assertion criteria provided | clinical testing | |
Genome |
RCV000984531 | SCV001423244 | not provided | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | no assertion provided | phenotyping only | Variant interpretted as Likely pathogenic and reported on 01-24-2019 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. |