Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Medicine |
RCV001249611 | SCV001423641 | likely pathogenic | Ehlers-Danlos syndrome, type 4 | 2018-12-17 | criteria provided, single submitter | clinical testing | [ACMG/AMP: PM1, PM2, PP2, PP3] This alteration is located in a mutational hotspot and/or critical and well-established functional domain [PM1], is absent from or rarely observed in large-scale population databases [PM2], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], is predicted to be damaging by multiple functional prediction tools [PP3]. |