ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1261C>T (p.Leu421=)

dbSNP: rs1194745110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173410 SCV001336498 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001493513 SCV001698142 likely benign Charcot-Marie-Tooth disease type 2 2023-05-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004807228 SCV005427706 likely benign Primary dilated cardiomyopathy 2024-04-25 criteria provided, single submitter clinical testing

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