ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)

dbSNP: rs59981161
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193901 SCV000247853 pathogenic Familial partial lipodystrophy, Dunnigan type 2015-01-29 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057302 SCV000088415 not provided not provided no assertion provided not provided

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