Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588998 | SCV000697159 | uncertain significance | not provided | 2016-10-11 | criteria provided, single submitter | clinical testing | Variant summary: The HBB c.93-6C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant while 5/5 splice prediction tools predict the variant not to have a significant impact on splicing. This variant is absent in 120998 control chromosomes. 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. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Invitae | RCV000588998 | SCV002474618 | likely benign | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834855 | SCV002089236 | uncertain significance | beta Thalassemia | 2020-10-18 | no assertion criteria provided | clinical testing |