ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108221832)_(108370099_?)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 RCV001032031 SCV001195338 pathogenic Ataxia-telangiectasia syndrome 2020-10-13 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ATM gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A gross deletion encompassing the ATM gene and other genes has been observed in individual(s) with pancreatic cancer (PMID: 31671381). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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