Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001057216 | SCV001221698 | likely benign | Intellectual disability, autosomal dominant 5 | 2020-06-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001057216 | SCV001526206 | uncertain significance | Intellectual disability, autosomal dominant 5 | 2018-03-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |