ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.864C>T (p.Ser288=)

gnomAD frequency: 0.00001  dbSNP: rs1440075723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944762 SCV001090742 likely benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2022-02-03 criteria provided, single submitter clinical testing

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