Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780327 | SCV000917497 | uncertain significance | not specified | 2017-09-06 | criteria provided, single submitter | clinical testing | Variant summary: The HBB c.316-28G>C variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121296 control chromosomes from ExAC. Pathogenic variants have been seen scattered across this intronic region such as c.316-238C>T, c.316-197C>T, c.316-146T>G, c.316-106C>G, c.316-14T>G, and c.316-12T>C. To our knowledge, this variant has not been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as Variant of Unknown Significance. |
Invitae | RCV002068538 | SCV002469769 | likely benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing |