ClinVar Miner

Submissions for variant NC_000023.10:g.(?_53421698)_(53421808_?)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 RCV001374167 SCV001570949 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2020-03-06 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 19 of the SMC1A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SMC1A-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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