ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)

gnomAD frequency: 0.00004  dbSNP: rs370160870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482010 SCV000571499 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000651624 SCV000773478 benign Developmental and epileptic encephalopathy 94 2024-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000651624 SCV000896497 uncertain significance Developmental and epileptic encephalopathy 94 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525895 SCV003688430 likely benign Inborn genetic diseases 2021-11-08 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252450 SCV001428206 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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