Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698422 | SCV000726912 | likely benign | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000637310 | SCV000758761 | likely benign | Costello syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024985 | SCV003611204 | uncertain significance | Cardiovascular phenotype | 2022-06-17 | criteria provided, single submitter | clinical testing | The c.451-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before exon 5 (coding exon 4) of the HRAS gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |