ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.633C>T (p.Asp211=)

gnomAD frequency: 0.00001  dbSNP: rs1043525791
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614774 SCV000719391 likely benign not specified 2017-05-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001434600 SCV001637410 likely benign Developmental and epileptic encephalopathy, 31A 2022-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368059 SCV002659509 likely benign Inborn genetic diseases 2018-04-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV001434600 SCV002795816 likely benign Developmental and epileptic encephalopathy, 31A 2022-04-24 criteria provided, single submitter clinical testing

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