ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6483T>A (p.His2161Gln)

gnomAD frequency: 0.00030  dbSNP: rs185505138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717888 SCV001942037 benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073348 SCV002407675 benign CHARGE syndrome 2024-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359222 SCV002654828 likely benign Inborn genetic diseases 2021-10-11 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 RCV003968510 SCV004781010 likely benign CHD7-related disorder 2023-11-07 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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