ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3506G>C (p.Arg1169Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Heidelberg University RCV004006246 SCV004814185 likely pathogenic Snijders Blok-Campeau syndrome 2023-11-03 criteria provided, single submitter clinical testing

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