ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3989+9C>T

gnomAD frequency: 0.00029  dbSNP: rs373206209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425123 SCV000528761 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001503086 SCV001707927 likely benign CHARGE syndrome 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488942 SCV002798073 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-02-09 criteria provided, single submitter clinical testing

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