Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatrics, |
RCV001375842 | SCV001572614 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2014-06-01 | no assertion criteria provided | research | The change c.922G>C (p.D308H) was a missense variant, where the acidic polar negative amino acid Aspartic acid at 333 position was substituted by aromatic basic polar amino acid Histidine. It was detected in a hemizygous state in one male patient with sever phenotype from New Delhi, India. |