Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067074 | SCV001232106 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288406 | SCV001475487 | uncertain significance | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001288406 | SCV002564076 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003396712 | SCV004119342 | uncertain significance | SETX-related condition | 2023-01-26 | criteria provided, single submitter | clinical testing | The SETX c.5071C>A variant is predicted to result in the amino acid substitution p.Leu1691Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135201914-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |