Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506543 | SCV000605098 | benign | not specified | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000540713 | SCV000645281 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000506543 | SCV001880521 | benign | not specified | 2021-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001848877 | SCV002105186 | likely benign | Hereditary spastic paraplegia | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003233656 | SCV003931944 | likely benign | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003233657 | SCV003931955 | likely benign | Amyotrophic lateral sclerosis type 4 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003431055 | SCV004156596 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | SETX: BP4, BP7 |