ClinVar Miner

Submissions for variant NM_014516.4(CNOT3):c.1708ATC[1] (p.Ile571del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227453 SCV003924001 likely pathogenic not provided 2024-05-28 criteria provided, single submitter clinical testing In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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