ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.747C>T (p.Thr249=)

gnomAD frequency: 0.00086  dbSNP: rs141651183
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704459 SCV000530456 benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318477 SCV000851149 likely benign Inborn genetic diseases 2016-08-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000951457 SCV001097859 benign Developmental and epileptic encephalopathy, 31 2024-01-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821198 SCV002071542 benign not specified 2017-11-20 criteria provided, single submitter clinical testing

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