ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3478C>A (p.Pro1160Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004555060 SCV005043928 likely pathogenic Snijders Blok-Campeau syndrome 2024-01-09 criteria provided, single submitter clinical testing PS2, PM2

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