ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8988-7T>G

gnomAD frequency: 0.00001  dbSNP: rs1487809821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524743 SCV000622870 likely benign Ataxia-telangiectasia syndrome 2023-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001547522 SCV001767254 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000524743 SCV002083176 uncertain significance Ataxia-telangiectasia syndrome 2020-11-23 no assertion criteria provided clinical testing

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