Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502164 | SCV000593253 | uncertain significance | not specified | 2016-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000767189 | SCV000621998 | uncertain significance | not provided | 2023-09-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001085309 | SCV000754264 | likely benign | Spastic paraplegia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001337048 | SCV001530609 | uncertain significance | Spastic paraplegia 52, autosomal recessive | 2018-04-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome Diagnostics Laboratory, |
RCV001848868 | SCV002105906 | likely benign | Hereditary spastic paraplegia | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000767189 | SCV002541613 | uncertain significance | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing |