ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr)

gnomAD frequency: 0.00007  dbSNP: rs57521499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851877 SCV002124949 benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2023-05-15 criteria provided, single submitter clinical testing
OMIM RCV000015562 SCV000035827 risk factor Acquired partial lipodystrophy 2006-08-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057198 SCV000088311 not provided not provided no assertion provided not provided

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