ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.-248_*326dup1339

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233688 SCV000283515 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2016-10-12 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the EMD gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in an individual with an EMD-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on EMD protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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