ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.235+8C>T

gnomAD frequency: 0.00021  dbSNP: rs370555560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584973 SCV000693298 likely benign not provided 2019-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653154 SCV000775030 likely benign Developmental and epileptic encephalopathy, 31A 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962652 SCV004780944 likely benign DNM1-related disorder 2023-04-09 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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