ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln)

gnomAD frequency: 0.00019  dbSNP: rs372077201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525041 SCV000631266 likely benign CHARGE syndrome 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001683558 SCV001896053 benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023815 SCV005027489 likely benign Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003935409 SCV004759694 likely benign CHD7-related disorder 2023-07-10 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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