ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8987+10A>G (rs1060504308)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776543 SCV000912146 likely benign Hereditary cancer-predisposing syndrome 2018-08-13 criteria provided, single submitter clinical testing
Counsyl RCV000464499 SCV000799828 likely benign Ataxia-telangiectasia syndrome 2018-05-10 criteria provided, single submitter clinical testing
Integrated 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.
Invitae RCV000464499 SCV000558438 likely benign Ataxia-telangiectasia syndrome 2017-07-07 criteria provided, single submitter clinical testing

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