Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Medicine |
RCV001249671 | SCV001423677 | likely pathogenic | Chromosome 2q32-q33 deletion syndrome | 2017-09-22 | criteria provided, single submitter | clinical testing | [ACMG/AMP: PS2, PM1, PM2, PP2] 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]. |