ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108250691)_(108257616_?)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 RCV001032157 SCV001195464 pathogenic Ataxia-telangiectasia syndrome 2019-10-23 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 a gross deletion of the genomic region encompassing exons 1-15 of the ATM gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 15 of the ATM gene. This is expected to result in an absent or disrupted protein product.

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