ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.698C>T (p.Thr233Met)

gnomAD frequency: 0.00002  dbSNP: rs779614513
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903182 SCV002161075 likely benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041603 SCV004053532 uncertain significance not specified 2023-08-04 criteria provided, single submitter clinical testing The c.638C>T (p.T213M) alteration is located in exon 5 (coding exon 5) of the LMNB2 gene. This alteration results from a C to T substitution at nucleotide position 638, causing the threonine (T) at amino acid position 213 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.