ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7471C>T (p.Arg2491Cys)

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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 RCV002952984 SCV003272432 benign CHARGE syndrome 2024-02-01 criteria provided, single submitter clinical testing

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