ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1350G>T (p.Pro450=)

gnomAD frequency: 0.00006  dbSNP: rs147897973
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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 RCV000488328 SCV000575594 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing DNM1: BP4, BP7
GeneDx RCV000488328 SCV000724135 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing
Invitae RCV001088872 SCV001068181 likely benign Developmental and epileptic encephalopathy, 31 2024-01-15 criteria provided, single submitter clinical testing

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