ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4483G>A (p.Val1495Met)

gnomAD frequency: 0.00021  dbSNP: rs770993927
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462605 SCV000553251 likely benign Developmental and epileptic encephalopathy 94 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001721503 SCV000618866 likely benign not provided 2020-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329076 SCV002639648 benign Inborn genetic diseases 2020-04-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV001721503 SCV004130949 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CHD2: BS2

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