Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000507380 | SCV000605600 | likely pathogenic | not specified | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000578488 | SCV000807644 | uncertain significance | Cranioectodermal dysplasia 2 | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant was previously reported as pathogenic and was found once in our laboratory In trans with another missense variant (H1031Y) in a 6-month-old male with cranioectodermal dysplasia. Heterozygotes would be expected to be asymptomatic carriers. |
Ambry Genetics | RCV001266500 | SCV001444675 | likely pathogenic | Inborn genetic diseases | 2018-05-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000578488 | SCV000680472 | pathogenic | Cranioectodermal dysplasia 2 | 2018-02-06 | no assertion criteria provided | literature only |