ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108206566)_(108236241_?)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 RCV000628324 SCV000749220 uncertain significance Ataxia-telangiectasia syndrome 2017-12-07 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 56-63 of the ATM gene. The 5' boundary is likely confined to intron 55. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with ATM-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated exons is currently unknown. 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.

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