Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000206316 | SCV000262246 | likely pathogenic | Fanconi anemia | 2015-11-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Likely Pathogenic. This variant is not present in population databases and has not been reported in the literature. This sequence change affects a donor splice site in intron 37. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. |