Submissions for variant NM_170707.4(LMNA):c.1584G>A (p.Thr528=) (rs80356812)

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Total submissions: 16

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color	RCV000771807	SCV000904508	benign	Cardiomyopathy	2018-08-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000827979	SCV000969653	likely benign	not provided	2018-05-03	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.
Illumina Clinical Services Laboratory,Illumina	RCV000297337	SCV000348927	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000370762	SCV000348928	likely benign	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000276010	SCV000348929	likely benign	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000312611	SCV000348930	likely benign	Emery-Dreifuss muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000284072	SCV000348931	likely benign	Hutchinson-Gilford syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000272639	SCV000348932	likely benign	Congenital muscular dystrophy, LMNA-related	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000327741	SCV000348933	likely benign	Familial partial lipodystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000284072	SCV000348934	likely benign	Hutchinson-Gilford syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000268685	SCV000348935	likely benign	Lethal tight skin contracture syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000323895	SCV000348936	likely benign	Mandibuloacral dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000464925	SCV000348937	likely benign	Charcot-Marie-Tooth disease, type 2	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000284072	SCV000348938	likely benign	Hutchinson-Gilford syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000464925	SCV000559815	benign	Charcot-Marie-Tooth disease, type 2	2018-01-09	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000041323	SCV000065016	likely benign	not specified	2012-04-03	criteria provided, single submitter	clinical testing	Thr528Thr in exon 9 of LMNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been listed in dbSNP (rs80356812) withou t frequency information. Thr528Thr in exon 9 of LMNA (allele frequency = n/a)

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