Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210162 | SCV001381633 | likely benign | not provided | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001210162 | SCV001873667 | uncertain significance | not provided | 2021-09-13 | 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 |
Ambry Genetics | RCV003284049 | SCV003984394 | uncertain significance | Inborn genetic diseases | 2023-05-17 | criteria provided, single submitter | clinical testing | The c.3800C>T (p.A1267V) alteration is located in exon 17 (coding exon 16) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 3800, causing the alanine (A) at amino acid position 1267 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001828683 | SCV002093918 | uncertain significance | Usher syndrome type 2A | 2020-03-10 | no assertion criteria provided | clinical testing |