ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6808-242_7516-275del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780891 SCV000918523 pathogenic Ataxia-telangiectasia syndrome 2017-09-28 criteria provided, single submitter clinical testing Variant summary: The c.6808-242_7516-275del variant involves a 5,350 bp deletion of exons 49-52 in the ATM gene. The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, ESP, 1000G) cannot detect duplications this large. The variant of interest has been reported in two A-T siblings in the literature and was associated with aberrant splicing (Nakamura 2012). Taken together, this variant has been classified as pathogenic.

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