Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001332212 | SCV001524454 | likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2019-11-07 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |