Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Functional Genomics, |
RCV003157997 | SCV003837584 | likely pathogenic | Stickler syndrome type 1 | criteria provided, single submitter | clinical testing | Variant NM_001844.5:c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC was found by whole genome sequencing in affected mother and her affected daughter. This variant is absent in control databases. Additionally, minigene assay revealed exon 13 skipping. Summary, obtained data allow to interpretate this variant as likely pathogenic (ACMG PM2, PP3, PS3, PP4). |