ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.2009T>C (p.Met670Thr)

dbSNP: rs1437208936
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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 RCV000653151 SCV000775027 likely benign Developmental and epileptic encephalopathy, 31A 2022-09-01 criteria provided, single submitter clinical testing
GeneDx RCV002275140 SCV002562684 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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