Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003064792 | SCV003452072 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003064792 | SCV003919536 | uncertain significance | not provided | 2022-10-17 | 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; Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL11A2 gene, where other pathogenic missense variants associated with autosomal dominant hearing loss have occurred (HGMD) |
Ambry Genetics | RCV003250724 | SCV003939377 | uncertain significance | Inborn genetic diseases | 2023-05-17 | criteria provided, single submitter | clinical testing | The c.2647G>A (p.G883S) alteration is located in exon 36 (coding exon 36) of the COL11A2 gene. This alteration results from a G to A substitution at nucleotide position 2647, causing the glycine (G) at amino acid position 883 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |