Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781434 | SCV000919453 | uncertain significance | not specified | 2018-03-16 | criteria provided, single submitter | clinical testing | Variant summary: HBB c.316-27T>G T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant is absent from 245422 control chromosomes (gnomAD). To our knowledge, no occurrence of c.316-27T>G in individuals affected with Hemoglobinopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as a VUS. |
Invitae | RCV001481699 | SCV001686047 | likely benign | not provided | 2020-07-21 | criteria provided, single submitter | clinical testing |