ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108227625)_(108365508_?)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 RCV001032134 SCV001195441 pathogenic Ataxia-telangiectasia syndrome 2024-01-30 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. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with breast cancer and/or ovarian cancer (PMID: 33047316). For these reasons, this variant has been classified as Pathogenic.

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