ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2251-7A>G (rs879254103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000237040 SCV000293501 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing This variant is denoted ATM c.2251-7A>G or IVS14-7A>G and consists of a A>G nucleotide substitution at the -7 position of intron 14 of the ATM gene. Multiple in silico models do not predict the natural splice acceptor site and a possible effect that this variant might have on abnormal gene splicing could not be excluded. In the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The adenine (A) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether ATM c.2251-7A>G is pathogenic or benign.
Invitae RCV000628260 SCV000749155 likely benign Ataxia-telangiectasia syndrome 2017-11-30 criteria provided, single submitter clinical testing

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