Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679901 | SCV000807327 | uncertain significance | Nicolaides-Baraitser syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old female with global delays with regression, autism, epilepsy, dymorphisms, short stature, joint laxity, scoliosis, hypohydrosis, thin hair, significant myopia |
Baylor Genetics | RCV001533098 | SCV001748918 | uncertain significance | SMARCA2-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Uni |
RCV000059658 | SCV000091228 | not provided | not provided | no assertion provided | not provided |