ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.732C>T (p.Ser244=)

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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 RCV005086849 SCV005719297 likely benign CHARGE syndrome 2025-02-03 criteria provided, single submitter clinical testing

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