Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003118618 | SCV003786819 | likely benign | not provided | 2021-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003118618 | SCV005375748 | uncertain significance | not provided | 2023-11-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |