Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics Laboratory, |
RCV000790594 | SCV000929946 | likely pathogenic | See cases | 2018-10-25 | criteria provided, single submitter | clinical testing | Patient also had pathogenic variant in SOS1 (c.806 T>Cp.Met269Thr) causing Noonan syndrome and was compound heterozygous for pathogenic variants in BTD (c.1330 G>C p.Asp444His and c.1368 A>C p.Gln456His) causing mild biotinidase deficiency |