ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4373AGA[3] (p.Lys1461del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288364 SCV002580606 uncertain significance KBG syndrome 2022-01-18 criteria provided, single submitter clinical testing
GeneDx RCV004779280 SCV005391191 uncertain significance not provided 2024-04-28 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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