ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3994-9C>T

dbSNP: rs767111803
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589533 SCV000694268 uncertain significance not provided 2016-05-27 criteria provided, single submitter clinical testing Variant summary: c.3994-9C>T in ATM gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant enhance the acceptor cite, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.000009 (1/112916 chrs tested). The observed frequency does not exceed the maximum expected allele frequency for a pathogenic variant of 0.0005, suggesting that it is not a common polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports or cited by reputable databases/clinical laboratory. Taking together the variant was classified as VUS until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV001078690 SCV000749156 likely benign Ataxia-telangiectasia syndrome 2023-07-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191541 SCV001359400 likely benign Hereditary cancer-predisposing syndrome 2019-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000589533 SCV001780467 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592900 SCV005082306 likely benign Familial cancer of breast 2024-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences RCV004553304 SCV004776677 likely benign ATM-related disorder 2019-09-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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