Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679983 | SCV000807417 | uncertain significance | Ellis-van Creveld syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | This mutation was found once in our laboratory in trans with another variant in a 3-year-old male with ectodermal dysplasia |