ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)

gnomAD frequency: 0.00011  dbSNP: rs201628571
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238777 SCV000297087 uncertain significance not specified 2015-08-19 criteria provided, single submitter clinical testing
GeneDx RCV001705318 SCV000512576 benign not provided 2020-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000469639 SCV000553255 likely benign Developmental and epileptic encephalopathy 94 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705318 SCV002063453 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing CHD2: BS1
Ambry Genetics RCV002338790 SCV002644363 likely benign Inborn genetic diseases 2021-10-29 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.

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