Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331611 | SCV001523689 | uncertain significance | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2019-08-03 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV001331611 | SCV002792722 | uncertain significance | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2021-09-28 | criteria provided, single submitter | clinical testing |