Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471089 | SCV000547462 | likely benign | Fanconi anemia | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821256 | SCV002067982 | uncertain significance | not specified | 2018-03-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002221540 | SCV002498938 | uncertain significance | not provided | 2021-10-11 | 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 |
Sema4, |
RCV000471089 | SCV002529311 | uncertain significance | Fanconi anemia | 2022-01-04 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002525559 | SCV003684671 | uncertain significance | Inborn genetic diseases | 2022-02-10 | criteria provided, single submitter | clinical testing | The c.2756C>T (p.T919I) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 2756, causing the threonine (T) at amino acid position 919 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |