Submissions for variant NM_170707.4(LMNA):c.936+12C>T (rs199881992)

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Total submissions: 14

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000342630	SCV000348842	uncertain significance	Charcot-Marie-Tooth disease, type 2	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000408245	SCV000348843	uncertain significance	Congenital muscular dystrophy, LMNA-related	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000307693	SCV000348844	uncertain significance	Emery-Dreifuss muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000277642	SCV000348845	uncertain significance	Hutchinson-Gilford syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000274234	SCV000348846	uncertain significance	Familial partial lipodystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000313011	SCV000348847	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000370046	SCV000348848	uncertain significance	Lethal tight skin contracture syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000277642	SCV000348849	uncertain significance	Hutchinson-Gilford syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000316315	SCV000348850	uncertain significance	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000373251	SCV000348851	uncertain significance	Mandibuloacral dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000262176	SCV000348852	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000277642	SCV000348853	uncertain significance	Hutchinson-Gilford syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000611471	SCV000723770	likely benign	not specified	2017-09-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001172628	SCV001335691	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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