ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.516A>G (p.Gln172=)

gnomAD frequency: 0.00004  dbSNP: rs770631510
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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 RCV000230376 SCV000286966 benign Developmental and epileptic encephalopathy 94 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001722226 SCV000722876 benign not provided 2021-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315694 SCV000848597 likely benign Inborn genetic diseases 2016-12-23 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.
Breakthrough Genomics, Breakthrough Genomics RCV001722226 SCV005214038 likely benign not provided criteria provided, single submitter not provided

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