Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680030 | SCV000807469 | uncertain significance | Infantile liver failure syndrome 1 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 2-year-old female with IUGR, motor delays, hypotonia, dysmorphisms, short stature, failure to thrive, atrial septal defect, hepatomegaly, anemia, severe hypoglycemia with illness, elevated lactate, seizure |