ClinVar Miner

Submissions for variant NM_001276309.3(NOL3):c.61G>C (p.Glu21Gln)

dbSNP: rs397514600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000033024 SCV003815971 uncertain significance Myoclonus, familial, 1 2020-04-01 criteria provided, single submitter clinical testing
OMIM RCV000033024 SCV000056804 pathogenic Myoclonus, familial, 1 2012-08-01 no assertion criteria provided literature only

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