ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3152A>C (p.Glu1051Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004821247 SCV005442354 uncertain significance Snijders Blok-Campeau syndrome 2024-12-19 criteria provided, single submitter clinical testing

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