Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Center for Mendelian Genomics, |
RCV000143865 | SCV000246129 | pathogenic | Acromelic frontonasal dysostosis | 2014-09-23 | criteria provided, single submitter | research | |
Gene |
RCV000478201 | SCV000568856 | pathogenic | not provided | 2022-04-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25105228, 33776626, 26706854) |
Ambry Genetics | RCV000624254 | SCV000742103 | pathogenic | Inborn genetic diseases | 2017-04-02 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000143865 | SCV000803459 | likely pathogenic | Acromelic frontonasal dysostosis | 2018-05-31 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Acromelic frontonasal dysostosis, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:25105228). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS4-Moderate => Observed in multiple unrelated patients. (PMID:25105228,26706854). |
Equipe Genetique des Anomalies du Developpement, |
RCV000143865 | SCV000803852 | pathogenic | Acromelic frontonasal dysostosis | 2017-10-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000478201 | SCV004011595 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | ZSWIM6: PS2:Very Strong, PM2, PP2, PS3:Supporting |
Daryl Scott Lab, |
RCV000143865 | SCV004102654 | pathogenic | Acromelic frontonasal dysostosis | 2023-11-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000143865 | SCV000188733 | pathogenic | Acromelic frontonasal dysostosis | 2014-08-07 | no assertion criteria provided | literature only | |
Genome |
RCV000143865 | SCV000986913 | not provided | Acromelic frontonasal dysostosis | no assertion provided | phenotyping only | Variant interpretted as pathogenic and reported on 09/20/2018 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |