Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001598845 | SCV001827417 | benign | not provided | 2021-02-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001598845 | SCV002488335 | benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506701 | SCV002797459 | likely benign | Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004980611 | SCV005562444 | uncertain significance | Inborn genetic diseases | 2024-12-07 | criteria provided, single submitter | clinical testing | The c.1918G>A (p.E640K) alteration is located in exon 32 (coding exon 32) of the COL9A3 gene. This alteration results from a G to A substitution at nucleotide position 1918, causing the glutamic acid (E) at amino acid position 640 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003931239 | SCV004739602 | likely benign | COL9A3-related disorder | 2019-03-06 | no assertion criteria provided | 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). |