Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002044160 | SCV002112095 | likely benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002482417 | SCV002786756 | uncertain significance | Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002545338 | SCV003744848 | uncertain significance | Inborn genetic diseases | 2022-03-31 | criteria provided, single submitter | clinical testing | The c.3221G>A (p.R1074H) alteration is located in exon 27 (coding exon 26) of the ITGB4 gene. This alteration results from a G to A substitution at nucleotide position 3221, causing the arginine (R) at amino acid position 1074 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV002044160 | SCV004036860 | uncertain significance | not provided | 2023-09-21 | 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 |