Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000211558 | SCV000268517 | pathogenic | CHARGE association | 2016-03-29 | criteria provided, single submitter | clinical testing | This de novo mutation in the CHD7 gene in the patient with the CHARGE syndrome has been described in an another patient with the same syndrome. |
Ambry Genetics | RCV000623636 | SCV000741058 | pathogenic | Inborn genetic diseases | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000211558 | SCV001365930 | pathogenic | CHARGE association | 2020-01-14 | criteria provided, single submitter | clinical testing | The p.Arg2098X variant in CHD7 has been previously reported de novo in 1 individual with CHARGE syndrome (Gennery 2008), and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 2098, which is predicted to lead to a truncated or absent protein. Loss of function of the CHD7 gene is an established disease mechanism in autosomal dominant CHARGE syndrome. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant CHARGE syndrome. ACMG/AMP criteria applied: PVS1, PM2, PM6. |
Gene |
RCV001565316 | SCV001788642 | pathogenic | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18505430, 33240318, 25525159, 32477919, 21554267, 22461308, 21158681) |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001565316 | SCV001953627 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001565316 | SCV001972328 | pathogenic | not provided | no assertion criteria provided | clinical testing |