ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108256205)_(108365508_?)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 RCV001033743 SCV001197050 uncertain significance Ataxia-telangiectasia syndrome 2019-08-20 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. Similar duplications have 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 14-63 of the ATM gene. The 5' boundary is likely confined to intron 13. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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