Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040564 | SCV001204145 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001040564 | SCV001802343 | uncertain significance | not provided | 2023-07-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002551476 | SCV003581431 | uncertain significance | Inborn genetic diseases | 2022-01-10 | criteria provided, single submitter | clinical testing | The c.1055C>T (p.P352L) alteration is located in exon 18 (coding exon 17) of the COL4A4 gene. This alteration results from a C to T substitution at nucleotide position 1055, causing the proline (P) at amino acid position 352 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001274060 | SCV001457790 | uncertain significance | Alport syndrome | 2020-02-13 | no assertion criteria provided | clinical testing |