ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.2462C>T (p.Thr821Met) (rs117422805)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000723613 SCV000196850 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24611677, 24082139, 27896284, 23891399)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723613 SCV000331387 uncertain significance not provided 2015-06-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000149994 SCV000595502 uncertain significance not specified 2016-09-24 criteria provided, single submitter clinical testing
Invitae RCV001084610 SCV000658653 benign Laminin alpha 2-related dystrophy 2020-12-05 criteria provided, single submitter clinical testing
Counsyl RCV000670870 SCV000795783 uncertain significance Merosin deficient congenital muscular dystrophy 2017-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001156369 SCV001317862 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723613 SCV001500925 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252050 SCV001427798 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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