ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.634G>A (p.Glu212Lys)

gnomAD frequency: 0.00001  dbSNP: rs759683244
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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 RCV003146793 SCV003830484 uncertain significance not provided 2020-10-24 criteria provided, single submitter clinical testing
GeneDx RCV003146793 SCV005874398 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 16227997)

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