ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5076C>T (p.Asn1692=)

gnomAD frequency: 0.00001  dbSNP: rs901529415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499636 SCV001704402 likely benign Developmental and epileptic encephalopathy 94 2020-03-07 criteria provided, single submitter clinical testing

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