ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4185+19C>T

gnomAD frequency: 0.00002  dbSNP: rs767064028
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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 RCV002124154 SCV002443067 likely benign CHARGE syndrome 2023-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486946 SCV002800571 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-02-03 criteria provided, single submitter clinical testing

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