ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.891C>T (p.Asp297=)

gnomAD frequency: 0.00014  dbSNP: rs567353575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704306 SCV000527702 benign not provided 2019-08-23 criteria provided, single submitter clinical testing
Invitae RCV000867073 SCV001008266 likely benign Developmental and epileptic encephalopathy 94 2023-12-06 criteria provided, single submitter clinical testing

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