ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp)

gnomAD frequency: 0.00010  dbSNP: rs145978406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952022 SCV001098487 likely benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2023-12-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336787 SCV001530282 uncertain significance Progressive myoclonic epilepsy type 9 2018-03-02 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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