Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085644 | SCV000766563 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000644848 | SCV001145535 | benign | not provided | 2018-11-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000644848 | SCV001949043 | benign | not provided | 2020-07-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22995991, 25133958, 20981092, 23129421, 17096168) |
Genome Diagnostics Laboratory, |
RCV001848884 | SCV002105126 | likely benign | Hereditary spastic paraplegia | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003233662 | SCV003931535 | likely benign | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003233663 | SCV003931536 | likely benign | Amyotrophic lateral sclerosis type 4 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000644848 | SCV004156618 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SETX: BP4, BS1, BS2 |