ClinVar Miner

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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