ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.2535+4T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005254139 SCV005906016 uncertain significance Cornelia de Lange syndrome 3 2023-08-02 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Intron variant In silico tools predict the variant to alter splicing and produce an abnormal transcript [SpliceAI: 0.34 (>=0.2, moderate evidence for spliceogenicity)]. Functional studies are recommended to observe the exact consequence. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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