Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156668 | SCV000206389 | likely benign | not specified | 2014-07-11 | criteria provided, single submitter | clinical testing | Asn387Asn in exon 10 of PTPN11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Invitae | RCV001469624 | SCV001673704 | likely benign | RASopathy | 2023-12-29 | criteria provided, single submitter | clinical testing |