ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4032T>G (p.Pro1344=)

gnomAD frequency: 0.00004  dbSNP: rs547927047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000937279 SCV000726787 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442197 SCV001645143 likely benign Developmental and epileptic encephalopathy 94 2024-11-18 criteria provided, single submitter clinical testing

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