ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)

gnomAD frequency: 0.00004  dbSNP: rs747794466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698117 SCV000725251 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000651625 SCV000773479 benign Developmental and epileptic encephalopathy 94 2023-06-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000651625 SCV004235049 uncertain significance Developmental and epileptic encephalopathy 94 2023-11-02 criteria provided, single submitter clinical testing

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