ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.571G>A (p.Val191Met)

gnomAD frequency: 0.00001  dbSNP: rs879253896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705303 SCV000292707 uncertain significance not provided 2019-11-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174243 SCV001337372 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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