ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.12G>A (p.Pro4=) (rs369823958)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422715 SCV000513492 benign not specified 2015-11-17 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.
Invitae RCV000527270 SCV000657798 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768707 SCV000900077 likely benign Cardiomyopathy 2015-12-15 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173407 SCV001336495 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color RCV000768707 SCV001359859 likely benign Cardiomyopathy 2020-03-03 criteria provided, single submitter clinical testing

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