ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1157+18C>T

gnomAD frequency: 0.00002  dbSNP: rs372021174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442840 SCV000513496 likely benign not specified 2016-10-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061420 SCV002370891 likely benign Charcot-Marie-Tooth disease type 2 2025-01-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711040 SCV005262259 likely benign not provided criteria provided, single submitter not provided

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