Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155698 | SCV000205408 | uncertain significance | not specified | 2013-06-11 | criteria provided, single submitter | clinical testing | The Glu1499Lys variant in COL11A2 has not been reported in individuals with hear ing loss or in large population studies. Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant. |
Gene |
RCV000766448 | SCV000573705 | uncertain significance | not provided | 2022-12-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Invitae | RCV000766448 | SCV004618543 | benign | not provided | 2023-04-23 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000845018 | SCV000986851 | not provided | COL11A2- Related Disorder | no assertion provided | phenotyping only | Variant interpretted as Uncertain significance and reported on 02/28/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |