ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)

gnomAD frequency: 0.00011  dbSNP: rs143717863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992276 SCV001144434 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001227755 SCV001400126 benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2022-11-28 criteria provided, single submitter clinical testing

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