ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1335+7C>T

gnomAD frequency: 0.00001  dbSNP: rs201230726
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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 RCV002201963 SCV002354409 likely benign Developmental and epileptic encephalopathy, 31A 2024-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958539 SCV004771902 likely benign DNM1-related disorder 2019-03-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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