ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108258976)_(108335971_?)dup

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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 RCV001031142 SCV001194448 uncertain significance Ataxia-telangiectasia syndrome 2019-08-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant results in a copy number gain of the genomic region encompassing exons 16-56 of the ATM gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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