Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000639560 | SCV000761136 | likely benign | Brachyolmia-amelogenesis imperfecta syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001573488 | SCV001882802 | benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001573488 | SCV001799437 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001573488 | SCV001929358 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome |
RCV001824849 | SCV002075267 | not provided | Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3 | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 02-29-2020 by Lab or GTR ID 500031. 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. |