ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1894-18G>T

gnomAD frequency: 0.00963  dbSNP: rs116335289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437118 SCV000523014 benign not specified 2016-01-20 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513680 SCV000610252 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065033 SCV002479766 benign Developmental and epileptic encephalopathy, 31A 2025-02-03 criteria provided, single submitter clinical testing

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