Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000578480 | SCV000807576 | uncertain significance | Cranioectodermal dysplasia 2 | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant was found once in our laboratory In trans with another missense variant (Y1068C) in a 6-month-old male with cranioectodermal dysplasia. |
OMIM | RCV000578480 | SCV000680471 | pathogenic | Cranioectodermal dysplasia 2 | 2018-02-06 | no assertion criteria provided | literature only |