ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1359C>T (p.Ile453=)

gnomAD frequency: 0.00004  dbSNP: rs777978644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720171 SCV000523129 likely benign not provided 2020-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001429955 SCV001632677 likely benign Developmental and epileptic encephalopathy 94 2024-03-07 criteria provided, single submitter clinical testing

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