Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464499 | SCV000558438 | likely benign | Ataxia-telangiectasia syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588444 | SCV000694388 | uncertain significance | not provided | 2017-08-16 | criteria provided, single submitter | clinical testing | Variant summary: The c.8987+10A>G in ATM gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing pattern, however no functional studies supporting these predictions were published at the time of evaluation. The variant is absent from control population datasets of ExAC (~121392 chrs tested) but is present at a low frequency in gnomAD (0.0000040; 1/246164 chrs tested). The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but is cited as Likely Benign by reputable databases/clinical laboratory. Taking together the variant was classified as VUS until additional information becomes available. |
Counsyl | RCV000464499 | SCV000799828 | likely benign | Ataxia-telangiectasia syndrome | 2018-05-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000776543 | SCV000912146 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-13 | criteria provided, single submitter | clinical testing |