ClinVar Miner

Submissions for variant NC_000002.11:g.(?_128396836)_(128432618_?)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 RCV000559285 SCV000655771 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2017-04-22 criteria provided, single submitter clinical testing In summary, the exact genomic location of this variant is unknown and the impact of this duplication on LIMS2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. This duplication has not been reported in the literature in individuals with a LIMS2-related disease. A gross duplication of the genomic region encompassing the full coding sequence of the LIMS2 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.

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