Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000853571 | SCV001430111 | likely pathogenic | Siddiqi syndrome | 2019-02-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766769 | SCV001990659 | uncertain significance | not provided | 2020-02-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30288795, 33098801) |
OMIM | RCV000853571 | SCV000996537 | pathogenic | Siddiqi syndrome | 2019-10-24 | no assertion criteria provided | literature only |