Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001224188 | SCV001396371 | pathogenic | not provided | 2023-02-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1278Serfs*9) in the ELP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELP1 are known to be pathogenic (PMID: 18303054, 24173031). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 952137). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002480739 | SCV002777385 | likely pathogenic | Medulloblastoma; Familial dysautonomia | 2022-01-12 | criteria provided, single submitter | clinical testing |