ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1389C>T (p.Ser463=)

gnomAD frequency: 0.00001  dbSNP: rs1433379020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002166182 SCV002480697 likely benign Charcot-Marie-Tooth disease type 2 2021-10-29 criteria provided, single submitter clinical testing

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