Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671919 | SCV000796953 | uncertain significance | Ellis-van Creveld syndrome | 2018-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003159150 | SCV003852953 | likely pathogenic | not provided | 2023-03-29 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19876929, 17024374) |