Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000203298 | SCV001164407 | uncertain significance | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2018-12-03 | criteria provided, single submitter | research | The heterozygous p.Arg815Trp variant in MECOM was identified by our study in one individual with radioulnar synostosis with amegakaryocytic thrombocytopenia. This variant was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg815Trp variant is uncertain. ACMG/AMP Criteria applied: PM2 (Richards 2015). |
Baylor Genetics | RCV000203298 | SCV001523713 | pathogenic | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2020-11-18 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
OMIM | RCV000203298 | SCV000258421 | pathogenic | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2015-12-03 | no assertion criteria provided | literature only |