Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542929 | SCV000631983 | likely benign | Succinate-semialdehyde dehydrogenase deficiency | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577126 | SCV001804457 | uncertain significance | not provided | 2020-12-21 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25553455) |
Mayo Clinic Laboratories, |
RCV001577126 | SCV002542159 | uncertain significance | not provided | 2021-07-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527707 | SCV003604221 | uncertain significance | Inborn genetic diseases | 2021-04-27 | criteria provided, single submitter | clinical testing | The c.1211C>G (p.A404G) alteration is located in exon 8 (coding exon 8) of the ALDH5A1 gene. This alteration results from a C to G substitution at nucleotide position 1211, causing the alanine (A) at amino acid position 404 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Diagnostic Laboratory, |
RCV001249504 | SCV001423494 | likely pathogenic | Intellectual disability | 2018-12-01 | no assertion criteria provided | clinical testing |