ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2835C>T (p.Thr945=)

gnomAD frequency: 0.00005  dbSNP: rs752124959
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696766 SCV000533566 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Invitae RCV000542701 SCV000654324 likely benign Developmental and epileptic encephalopathy 94 2024-01-25 criteria provided, single submitter clinical testing

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