Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002502449 | SCV002806376 | likely pathogenic | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2021-07-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000415542 | SCV000493972 | pathogenic | Autosomal recessive spastic paraplegia type 78 | 2017-02-01 | no assertion criteria provided | literature only | |
Solve- |
RCV004767250 | SCV005091433 | likely pathogenic | Kufor-Rakeb syndrome | 2022-06-01 | no assertion criteria provided | provider interpretation | Variant confirmed as disease-causing by referring clinical team |