ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7989G>A (p.Ala2663=)

gnomAD frequency: 0.00006  dbSNP: rs767067759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401817 SCV001603650 likely benign CHARGE syndrome 2023-06-12 criteria provided, single submitter clinical testing
GeneDx RCV001556995 SCV001778681 likely benign not provided 2020-10-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504669 SCV002804524 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-03-14 criteria provided, single submitter clinical testing

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