ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1416T>C (p.Gly472=)

gnomAD frequency: 0.59479  dbSNP: rs11084940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522000 SCV001731449 benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001657747 SCV001880974 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001657747 SCV005313544 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117495 SCV000151713 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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