ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.-109G>T

gnomAD frequency: 0.00002  dbSNP: rs886045360
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000405878 SCV000348697 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298025 SCV000348698 uncertain significance Congenital muscular dystrophy due to LMNA mutation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359848 SCV000348699 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267691 SCV000348700 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301697 SCV000348701 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359648 SCV000348702 uncertain significance Lethal tight skin contracture syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272013 SCV000348703 uncertain significance Mandibuloacral dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301697 SCV000348704 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381613 SCV000348705 uncertain significance Familial partial lipodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270930 SCV000348706 uncertain significance Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332962 SCV000348707 uncertain significance Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301697 SCV000348708 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing

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