ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg)

gnomAD frequency: 0.00029  dbSNP: rs146655995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698156 SCV000526620 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000475507 SCV000553253 likely benign Developmental and epileptic encephalopathy 94 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323623 SCV002626483 likely benign Inborn genetic diseases 2017-06-26 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 RCV001698156 SCV005214053 likely benign not provided criteria provided, single submitter not provided

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