Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680007 | SCV000807445 | uncertain significance | Mucopolysaccharidosis, MPS-III-C | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory homozygous in a 8-year-old female with developmental delay with regression, intellectual disability, PDD, sleep disruption, hyperactivity, mild sensorineural hearing loss, mild dysmorphisms |