Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000946280 | SCV001092399 | likely benign | Nephronophthisis 18 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001805942 | SCV002050438 | uncertain significance | not provided | 2021-12-23 | criteria provided, single submitter | clinical testing | 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 |
Ambry Genetics | RCV003169457 | SCV003873276 | uncertain significance | Inborn genetic diseases | 2023-02-16 | criteria provided, single submitter | clinical testing | The c.1232T>C (p.M411T) alteration is located in exon 11 (coding exon 9) of the CEP83 gene. This alteration results from a T to C substitution at nucleotide position 1232, causing the methionine (M) at amino acid position 411 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003925866 | SCV004738112 | likely benign | CEP83-related condition | 2020-01-10 | 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). |