ClinVar Miner

Submissions for variant NC_000001.10:g.(?_154141771)_(154148734_?)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 RCV004583977 SCV005065091 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2020-02-21 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. This variant has not been reported in the literature in individuals with TPM3-related conditions. This variant is a sub-genic deletion of the genomic region encompassing exons 3-9 of the TPM3 gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product.

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