Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268653 | SCV001447735 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001331007 | SCV001522898 | pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2019-01-20 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |