Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079667 | SCV000111550 | uncertain significance | not provided | 2012-08-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000679865 | SCV000807232 | uncertain significance | DPAGT1-congenital disorder of glycosylation | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory in a homozygous state in a 1-month-old female with IUGR, abnormal movements, dysmorphisms, contractures, structural brain abnormalities, eye anomalies, skeletal abnormalities, limb malformations. Biochemical studies consistent with disorder of glycosylation |