ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp)

gnomAD frequency: 0.00025  dbSNP: rs148936043
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000652851 SCV000774723 benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532366 SCV001747903 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing

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