ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) (rs147077184)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000659062 SCV000229395 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000194655 SCV000247808 uncertain significance not specified 2014-12-01 criteria provided, single submitter clinical testing
Center for Genetic Medicine Research,Children's National Medical Center RCV000194655 SCV000265802 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
GeneDx RCV000194655 SCV000518856 likely benign not specified 2017-06-20 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.
Invitae RCV001081183 SCV000658688 benign Laminin alpha 2-related dystrophy 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659062 SCV000780869 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000509423 SCV000782654 uncertain significance Merosin deficient congenital muscular dystrophy 2017-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000659062 SCV000842619 benign not provided 2017-12-15 criteria provided, single submitter clinical testing
Mendelics RCV000509423 SCV001137222 uncertain significance Merosin deficient congenital muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152676 SCV001313901 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.
GenomeConnect, ClinGen RCV000509423 SCV000607097 not provided Merosin deficient congenital muscular dystrophy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000709620 SCV000839536 pathogenic MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 2018-10-05 no assertion criteria provided literature only

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