Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001293990 | SCV001482731 | uncertain significance | Developmental malformations-deafness-dystonia syndrome | 2020-09-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. Predicted loss-of-function (pLoF) variants in ACTB have been reported in patients with a pleiotropic developmental disorder that is distinct from BRWS1 [PMID:29220674] |