Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041293 | SCV000064984 | benign | not specified | 2011-06-27 | criteria provided, single submitter | clinical testing | c.496+13A>G in intron 5 of USH1C: This variant is not expected to have clinical significance because it is not located in the conserved region of the splicing c onsensus sequence. Furthermore, this variant is present in over 1% of cases. |
Invitae | RCV001488934 | SCV001693464 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing |