ClinVar Miner

Submissions for variant NC_000012.11:g.(?_57640567)_(57642001_?)del

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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 RCV001941327 SCV002218034 uncertain significance Bailey-Bloch congenital myopathy 2021-10-15 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 affected with STAC3-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5-6 of the STAC3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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