ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)

dbSNP: rs761860129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034195 SCV001197526 likely benign Developmental and epileptic encephalopathy 94 2019-03-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001034195 SCV003831909 uncertain significance Developmental and epileptic encephalopathy 94 2022-03-23 criteria provided, single submitter clinical testing

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