ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3501T>C (p.Gly1167=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005153685 SCV005777405 likely benign CHARGE syndrome 2024-11-13 criteria provided, single submitter clinical testing

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