Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218682 | SCV000270857 | likely benign | not specified | 2015-06-26 | criteria provided, single submitter | clinical testing | c.1203-13T>A in intron 9 of SOS1: This variant is not expected to have clinical significance because it has been identified in 0.1% (12/9406) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145166996) and splice variants are not a known mechanism of disease for Noonan syndrome. |
Gene |
RCV001711995 | SCV001944519 | benign | not provided | 2019-03-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002054954 | SCV002327199 | benign | RASopathy | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000218682 | SCV002548386 | benign | not specified | 2022-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467677 | SCV002763453 | benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467676 | SCV002763454 | benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Breakthrough Genomics, |
RCV001711995 | SCV005263397 | likely benign | not provided | criteria provided, single submitter | not provided |