ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.1410-11_1410-6del

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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 RCV003613494 SCV004458085 uncertain significance Cornelia de Lange syndrome 3 2023-04-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 SMC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 of the SMC3 gene. It does not directly change the encoded amino acid sequence of the SMC3 protein.

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