Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002474159 | SCV002770250 | uncertain significance | not provided | 2022-06-23 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |
Labcorp Genetics |
RCV002474159 | SCV003523797 | benign | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004612176 | SCV005108809 | uncertain significance | Inborn genetic diseases | 2024-04-24 | criteria provided, single submitter | clinical testing | The c.352A>G (p.I118V) alteration is located in exon 3 (coding exon 3) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 352, causing the isoleucine (I) at amino acid position 118 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |