ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4199_4201del (p.Cys1400_His1401delinsTyr)

dbSNP: rs2487910213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003443592 SCV004168758 uncertain significance not provided 2023-04-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 2 amino acids in-frame and insertion of 1 incorrect 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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