ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5665+11A>G

gnomAD frequency: 0.00004  dbSNP: rs765928233
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127237 SCV002407187 benign CHARGE syndrome 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500059 SCV002810763 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-11-12 criteria provided, single submitter clinical testing

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