ClinVar Miner

Submissions for variant NM_004284.6(CHD1L):c.1929del (p.Arg643fs)

gnomAD frequency: 0.00002  dbSNP: rs782144677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003489850 SCV004235044 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736171 SCV000864468 pathogenic Short stature 2001-11-18 no assertion criteria provided case-control

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