ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2593_*3del (p.Glu865_Ter871del)

dbSNP: rs2513383258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002508690 SCV002817959 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein elongation, as the last 6 amino acids are replaced with 144 different amino acids; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16227997)

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