Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499961 | SCV000597810 | pathogenic | Syndromic X-linked intellectual disability Nascimento type | 2016-02-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000499961 | SCV000044176 | pathogenic | Syndromic X-linked intellectual disability Nascimento type | 2010-06-01 | no assertion criteria provided | literature only | |
Genome |
RCV000509156 | SCV000607371 | not provided | not provided | no assertion provided | phenotyping only | 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. |