ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2601A>G (p.Thr867=)

gnomAD frequency: 0.00004  dbSNP: rs145367388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697405 SCV000715256 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001412983 SCV001615085 likely benign Developmental and epileptic encephalopathy 94 2024-11-24 criteria provided, single submitter clinical testing

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