ClinVar Miner

Submissions for variant NM_014516.4(CNOT3):c.734GCCACA[3] (p.245SH[3])

dbSNP: rs2146598542
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002250901 SCV002521093 uncertain significance Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Inframe insertion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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