We are the first to report a prenatal case of RBS diagnosed in a Chinese family. Here, we have confirmed that the rare variant is a definite pathogenic variant, and we provide detailed phenotypic char
The rare variants validated by Sanger sequencing are shown in bold font. The variants excluded by Sanger sequencing or KASP genotyping are underlined. cytoBand: Chromosome Band; AA change: amino acid
Additional file 2: Specific instance of assay literature curation results. Table S1. Summary of CDH1 variant-level curation. Table S2. Summary of CDH1 specific instance-level curation. Table S3. Compa
