ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.1658A>T (p.Lys553Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003989443 SCV004808312 uncertain significance Snijders Blok-Campeau syndrome 2022-11-21 no assertion criteria provided clinical testing

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