ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)

gnomAD frequency: 0.00001  dbSNP: rs199851404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718962 SCV000722648 likely benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868059 SCV002143265 likely benign Developmental and epileptic encephalopathy 94 2024-04-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001868059 SCV002801643 likely benign Developmental and epileptic encephalopathy 94 2021-10-14 criteria provided, single submitter clinical testing

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