Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Medicine Lab, |
RCV000202579 | SCV000257528 | pathogenic | Sialidosis type 2; Non-immune hydrops fetalis | 2014-06-22 | no assertion criteria provided | clinical testing | The splice site mutation (chr6: 31,829,229 T > C) compromises the recognition of SR-proteins at the 3’ acceptor site and thereby lead to skipping of the exon 3 from the final transcript. Though, due to the heterozygous state of the patient, influence of this mutation might be less prominent |