ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4644+17A>G

gnomAD frequency: 0.00008  dbSNP: rs376953317
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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 RCV002102851 SCV002385547 likely benign CHARGE syndrome 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494189 SCV002796609 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-08-27 criteria provided, single submitter clinical testing

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