ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr)

gnomAD frequency: 0.01123  dbSNP: rs61756301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228010 SCV000286962 benign Developmental and epileptic encephalopathy 94 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000420173 SCV000522732 benign not specified 2016-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002315693 SCV000847356 benign Inborn genetic diseases 2016-06-07 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.

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