Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652674 | SCV000774545 | likely benign | Primary ciliary dyskinesia 33 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000652674 | SCV001526663 | uncertain significance | Primary ciliary dyskinesia 33 | 2018-06-06 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV003313128 | SCV004012433 | uncertain significance | not provided | 2023-01-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003953198 | SCV004767440 | likely benign | GAS8-related condition | 2023-06-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |