Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523042 | SCV000621279 | uncertain significance | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; Acke et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function |
Invitae | RCV000523042 | SCV002144973 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000523042 | SCV004565050 | uncertain significance | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing | The COL11A1 c.1063T>C; p.Ser355Pro variant (rs141036911), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 452469). This variant is observed in the general population with an overall allele frequency of 0.006% (18/282378 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.205). Due to limited information, the clinical significance of this variant is uncertain at this time. |