ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1137C>T (p.Asp379=)

gnomAD frequency: 0.00006  dbSNP: rs144455343
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886497 SCV001030006 likely benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413711 SCV004141371 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing LMNB2: BP4, BP7

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