Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622624 | SCV000742967 | pathogenic | Inborn genetic diseases | 2017-09-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000760554 | SCV000890445 | pathogenic | not provided | 2022-01-03 | 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 (gnomAD); This variant is associated with the following publications: (PMID: 28600779, 29276005, 31785789) |
Invitae | RCV000760554 | SCV004294960 | pathogenic | not provided | 2023-09-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1264*) in the KMT2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KMT2A are known to be pathogenic (PMID: 22795537, 25810209, 29574747). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of KMT2A-related conditions (PMID: 28600779, 29276005, 31785789). ClinVar contains an entry for this variant (Variation ID: 522088). For these reasons, this variant has been classified as Pathogenic. |
Center for Genomic Medicine, |
RCV003987627 | SCV004805004 | pathogenic | Wiedemann-Steiner syndrome | 2024-03-17 | criteria provided, single submitter | research | |
Service de Génétique Moléculaire, |
RCV001256980 | SCV001433526 | pathogenic | Rare genetic intellectual disability | no assertion criteria provided | clinical testing | ||
Autoinflammatory diseases unit, |
RCV001261359 | SCV001438233 | pathogenic | Hirsutism; Intellectual disability | 2018-11-28 | no assertion criteria provided | clinical testing |