ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3994-9C>T (rs767111803)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America 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.
Invitae RCV000628261 SCV000749156 likely benign Ataxia-telangiectasia syndrome 2017-10-06 criteria provided, single submitter clinical testing

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