ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3562G>A (p.Ala1188Thr)

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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 RCV002291171 SCV002583448 likely pathogenic Snijders Blok-Campeau syndrome 2022-05-02 no assertion criteria provided clinical testing

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