ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108173570)_(108175589_?)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 RCV001881530 SCV002148005 pathogenic Ataxia-telangiectasia syndrome 2022-06-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 36-37 of the ATM gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).

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