ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108292609)_(108293487_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001031674 SCV001194980 pathogenic Ataxia-telangiectasia syndrome 2019-04-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exons 30-31 of the ATM gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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