Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000522791 | SCV000616500 | likely benign | RASopathy | 2017-04-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.1540+8C>T variant in the SHOC2 gene is 0.0374% (34/66702) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581) |
Labcorp Genetics |
RCV000522791 | SCV000659156 | benign | RASopathy | 2023-12-10 | criteria provided, single submitter | clinical testing |