Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000656524 | SCV000778533 | pathogenic | Hajdu-Cheney syndrome | 2018-03-27 | criteria provided, single submitter | research | |
SIB Swiss Institute of Bioinformatics | RCV000656524 | SCV000787498 | likely pathogenic | Hajdu-Cheney syndrome | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Hajdu-cheney syndrome, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM1 => Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:21378989). |