ClinVar Miner

Submissions for variant NC_000002.12:g.(?_70212709)_(70248440_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032827 SCV001196134 uncertain significance Welander distal myopathy 2022-06-20 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TIA1 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TIA1 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with TIA1-related conditions. 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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