Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000696941 | SCV000825525 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-10-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000696941 | SCV000895958 | uncertain significance | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334326 | SCV002638021 | uncertain significance | Inborn genetic diseases | 2024-05-02 | criteria provided, single submitter | clinical testing | The c.4828C>T (p.L1610F) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a C to T substitution at nucleotide position 4828, causing the leucine (L) at amino acid position 1610 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Athena Diagnostics | RCV002473117 | SCV002771066 | uncertain significance | not provided | 2022-06-27 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV002473117 | SCV005190539 | uncertain significance | not provided | criteria provided, single submitter | not provided |