ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3067-6T>C

gnomAD frequency: 0.00001  dbSNP: rs901346678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697456 SCV000718245 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063130 SCV002349952 likely benign Developmental and epileptic encephalopathy 94 2024-10-16 criteria provided, single submitter clinical testing

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