ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7609-4G>T

gnomAD frequency: 0.00001  dbSNP: rs955067555
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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 RCV000871755 SCV001013466 likely benign CHARGE syndrome 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495298 SCV002799840 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-08-27 criteria provided, single submitter clinical testing

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