ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1772C>T (p.Thr591Met)

gnomAD frequency: 0.00007  dbSNP: rs772239774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543736 SCV000656474 likely benign Developmental and epileptic encephalopathy, 31 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000612565 SCV000731074 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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