ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.2129del (p.Pro710fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555501 SCV005044476 uncertain significance Snijders Blok-Campeau syndrome 2021-11-19 criteria provided, single submitter clinical testing ACMG Criteria: PM4, PM2_SUP, PP2, PP3 (ACMG Version 3)

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