ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1654-6A>G (rs4540995)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081567 SCV000113498 benign not specified 2012-07-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081567 SCV000269716 benign not specified 2014-11-26 criteria provided, single submitter clinical testing c.1654-6A>G in intron 15 of POMT2: This variant is not expected to have clinical significance because it has been identified in 23% (1034/4406) of African Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS/; dbSNP rs4540995).
PreventionGenetics,PreventionGenetics RCV000081567 SCV000311987 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270588 SCV000388976 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576561 SCV000677422 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081567 SCV000152367 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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