Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
The Raphael Recanati Genetics Institute, |
RCV001507333 | SCV001712079 | likely pathogenic | Polydactyly; Heart, malformation of; Abnormal vertebral morphology; Hypoplastic left heart syndrome | no assertion criteria provided | clinical testing | This variant, NM_014209.2:c.350del, was observed in compound heterozygosity with NM_014209.2:c.757G>T |