Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001199206 | SCV001370228 | likely pathogenic | X-linked Alport syndrome | 2019-03-15 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP4. |
Ambry Genetics | RCV003163503 | SCV003905191 | uncertain significance | Inborn genetic diseases | 2023-02-15 | criteria provided, single submitter | clinical testing | The c.2116A>G (p.I706V) alteration is located in exon 27 (coding exon 27) of the COL4A5 gene. This alteration results from a A to G substitution at nucleotide position 2116, causing the isoleucine (I) at amino acid position 706 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |