ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3006G>A (p.Gln1002=)

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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 RCV005187674 SCV005818256 likely benign CHARGE syndrome 2024-03-29 criteria provided, single submitter clinical testing

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