Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680073 | SCV000807513 | uncertain significance | Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 1-year-old male with hypotonia, developmental delay, seizures, mild dysmorphisms. Another missense variant affecting the same codon has been previously reported in PMD. |