ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2638+6T>C (rs768305533)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474452 SCV000546764 uncertain significance Ataxia-telangiectasia syndrome 2016-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000579264 SCV000680649 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is denoted ATM c.2638+6T>C or IVS17+6T>C and consists of a T>C nucleotide substitution at the +6 position of intron 17 of the ATM gene. In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; however, 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. ATM c.2638+6T>C was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available information, it is unclear whether ATM c.2638+6T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000584345 SCV000687401 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 criteria provided, single submitter clinical testing

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