Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599259 | SCV000709897 | pathogenic | not provided | 2024-05-21 | 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20478267, 9654197, 17254487, 25525159, 8019556, 20664692, 9541113, 26275939, 30978479, 34008892, 34142234, 34599368, 37211999, 35982127, 27759048, 8533800) |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000599259 | SCV001467991 | pathogenic | not provided | 2020-08-04 | criteria provided, single submitter | clinical testing | |
Genetic Testing Center for Deafness, |
RCV001290145 | SCV001478198 | pathogenic | Waardenburg syndrome type 1 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335583 | SCV001528762 | pathogenic | Waardenburg syndrome type 3 | 2018-04-23 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as pathogenic [PMID 8019556, 26275939, 27759048, 25525159] |
Otorhinolaryngology Lab - |
RCV001290145 | SCV001792239 | pathogenic | Waardenburg syndrome type 1 | criteria provided, single submitter | research | Familial case: proband with bilateral profound sensorineural hearing loss, Telecanthus, nasal wings hypoplasia and hyperplasia of nasal root, and synophris, Blue hypoplastic irides and white hair forelock. Paternal grandmother and paternal aunt are also carriers of this variant and affected by only facial dysmorphisms | |
Laboratory of Medical Genetics, |
RCV001290145 | SCV001976945 | pathogenic | Waardenburg syndrome type 1 | 2021-10-01 | criteria provided, single submitter | clinical testing | PVS1, PM1, PM2, PP3, PP4, PP5 |
Labcorp Genetics |
RCV000599259 | SCV002240644 | pathogenic | not provided | 2025-02-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg223*) in the PAX3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAX3 are known to be pathogenic (PMID: 20127975, 23512835). This variant is present in population databases (rs772241382, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Waardenburg syndrome (PMID: 8019556, 30978479). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 503680). For these reasons, this variant has been classified as Pathogenic. |
Neuberg Centre For Genomic Medicine, |
RCV001290145 | SCV004171872 | pathogenic | Waardenburg syndrome type 1 | criteria provided, single submitter | clinical testing | ||
Ce |
RCV000599259 | SCV004811470 | pathogenic | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | PAX3: PVS1, PM2, PS4:Moderate |