ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.296C>A (p.Pro99Gln)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002463403 SCV002757827 likely pathogenic Snijders Blok-Campeau syndrome 2020-10-09 criteria provided, single submitter clinical testing

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