Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518280 | SCV000615212 | benign | not specified | 2020-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000624322 | SCV000740953 | uncertain significance | Inborn genetic diseases | 2015-09-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764810 | SCV000895955 | uncertain significance | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000764810 | SCV000960834 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV001731743 | SCV001984421 | likely benign | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001702669 | SCV002576059 | uncertain significance | not provided | 2022-09-22 | 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; This variant is associated with the following publications: (PMID: 19696032, 15106121, 14770181, 15732101) |
Genome Diagnostics Laboratory, |
RCV001702669 | SCV001927740 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702669 | SCV001970314 | likely benign | not provided | no assertion criteria provided | clinical testing |