Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659496 | SCV000781313 | pathogenic | Waardenburg syndrome type 4A | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092078 | SCV001248436 | pathogenic | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001092078 | SCV003442185 | pathogenic | not provided | 2022-07-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 16640). This premature translational stop signal has been observed in individual(s) with EDNRB-related conditions (PMID: 11891690). This variant is present in population databases (rs104894391, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg201*) in the EDNRB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDNRB are known to be pathogenic (PMID: 8001159, 10528251, 20127975, 30394532). |
OMIM | RCV000018120 | SCV000038399 | pathogenic | ABCD syndrome | 2002-03-15 | no assertion criteria provided | literature only |