ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2189+8C>T

dbSNP: rs1486555733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002145277 SCV002411232 likely benign Developmental and epileptic encephalopathy 94 2024-09-10 criteria provided, single submitter clinical testing
New York Genome Center RCV002145277 SCV002548734 uncertain significance Developmental and epileptic encephalopathy 94 2021-07-09 criteria provided, single submitter clinical testing

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