ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.281C>T (p.Ala94Val)

gnomAD frequency: 0.00008  dbSNP: rs778299381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808100 SCV000948192 likely benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2024-06-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336789 SCV001530284 uncertain significance Progressive myoclonic epilepsy type 9 2018-01-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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