ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4354-12T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002629451 SCV003518846 likely benign CHARGE syndrome 2022-09-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050761 SCV005682017 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-03-22 criteria provided, single submitter clinical testing

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