Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Medicine |
RCV001249680 | SCV001423634 | pathogenic | Epileptic encephalopathy, infantile or early childhood, 3 | 2018-02-19 | criteria provided, single submitter | clinical testing | [ACMG/AMP: PS2, PM1, PM2, PP2, PP3] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], 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]. |
Ambry Genetics | RCV001266050 | SCV001444222 | likely pathogenic | Inborn genetic diseases | 2018-08-16 | criteria provided, single submitter | clinical testing |