ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1247G>T (p.Arg416Leu)

gnomAD frequency: 0.00025  dbSNP: rs200293412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652864 SCV000774736 benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937988 SCV004761613 benign LMNB2-related condition 2021-01-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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