Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588496 | SCV000697110 | uncertain significance | not provided | 2016-12-13 | criteria provided, single submitter | clinical testing | Variant summary: The HBB c.316-128G>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict that this variant may slightly strengthen a cryptic 3' splice acceptor site. However, these predictions have yet to be confirmed by functional studies. ExAC, ESP and 1000G do not have sequencing coverage for this variant. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. At least one variant in this region, c.316-106C>G, has been classified as pathogenic (Labcorp and other reputable sources). Taken together, this variant is classified as VUS. |
Invitae | RCV000588496 | SCV003310050 | likely benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing |