Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000518863 | SCV000621254 | uncertain significance | not provided | 2023-11-06 | 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 does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 25240749, HGMD) |
Invitae | RCV000518863 | SCV002396571 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525238 | SCV003598280 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.146A>G (p.N49S) alteration is located in exon 2 (coding exon 2) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 146, causing the asparagine (N) at amino acid position 49 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003942718 | SCV004765948 | likely benign | COL11A1-related condition | 2022-08-06 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |