ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2376+19G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051653 SCV005681975 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005105306 SCV005778950 likely benign CHARGE syndrome 2024-06-21 criteria provided, single submitter clinical testing

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