ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1969-4T>C

gnomAD frequency: 0.00001  dbSNP: rs751715969
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000921791 SCV001067204 likely benign Charcot-Marie-Tooth disease type 2 2023-07-29 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173404 SCV001336492 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179743 SCV001344472 likely benign Cardiomyopathy 2020-03-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702860 SCV001930331 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702860 SCV001952420 likely benign not provided no assertion criteria provided clinical testing

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