ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.-62C>A

dbSNP: rs886045361
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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 RCV000307684 SCV000348721 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369092 SCV000348722 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277124 SCV000348723 uncertain significance Lethal tight skin contracture syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279605 SCV000348724 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279605 SCV000348725 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261953 SCV000348726 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319491 SCV000348727 uncertain significance Congenital muscular dystrophy due to LMNA mutation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371719 SCV000348728 uncertain significance Mandibuloacral dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279605 SCV000348729 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323065 SCV000348730 uncertain significance Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379964 SCV000348731 uncertain significance Familial partial lipodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283250 SCV000348732 uncertain significance Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 2016-06-14 criteria provided, single submitter clinical testing

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