ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) (rs36044314)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078750 SCV000110610 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000078750 SCV000257691 benign not specified 2015-02-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078750 SCV000304126 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000555236 SCV000658636 benign Laminin alpha 2-related dystrophy 2017-08-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078750 SCV000151644 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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