ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3378+18T>C

gnomAD frequency: 0.00004  dbSNP: rs141625014
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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 RCV002163211 SCV002468145 likely benign CHARGE syndrome 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500327 SCV002798934 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-04-09 criteria provided, single submitter clinical testing

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