ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4377A>G (p.Glu1459=)

gnomAD frequency: 0.00003  dbSNP: rs1278636503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539171 SCV001756915 likely benign not provided 2020-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071946 SCV002346785 likely benign CHARGE syndrome 2024-07-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940987 SCV004751418 likely benign CHD7-related disorder 2023-11-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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