ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1501C>T (p.His501Tyr)

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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 RCV005041272 SCV005681934 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2023-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005063327 SCV005691523 benign CHARGE syndrome 2024-11-26 criteria provided, single submitter clinical testing

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