ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3006T>C (p.Ala1002=)

gnomAD frequency: 0.00001  dbSNP: rs186862897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552885 SCV001773657 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003581795 SCV004278817 likely benign Developmental and epileptic encephalopathy 94 2024-06-26 criteria provided, single submitter clinical testing

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