ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1512A>G (p.Gln504=)

gnomAD frequency: 0.00001  dbSNP: rs587783430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145654 SCV000192754 uncertain significance CHARGE syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145654 SCV002397694 likely benign CHARGE syndrome 2021-10-12 criteria provided, single submitter clinical testing

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