ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7234G>T (p.Glu2412Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV005257980 SCV005911538 pathogenic CHARGE syndrome 2024-04-01 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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