Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996724 | SCV001151604 | likely benign | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549948 | SCV003563999 | uncertain significance | Inborn genetic diseases | 2021-06-04 | criteria provided, single submitter | clinical testing | The c.2030-3C>T intronic alteration consists of a C to T substitution 3 nucleotides before coding exon 10 in the INSR gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |