Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472321 | SCV000557569 | benign | Primary ciliary dyskinesia 30 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Johns Hopkins Genomics, |
RCV000472321 | SCV001438385 | likely benign | Primary ciliary dyskinesia 30 | 2020-09-16 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV000472321 | SCV002761429 | likely benign | Primary ciliary dyskinesia 30 | 2020-02-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000472321 | SCV003799355 | likely benign | Primary ciliary dyskinesia 30 | 2022-09-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003221998 | SCV003918487 | uncertain significance | not provided | 2023-02-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |