ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.979G>A (p.Val327Ile) (rs4740164)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576678 SCV000677420 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2017-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081497 SCV000113428 benign not specified 2012-11-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081497 SCV000152362 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.
Illumina Clinical Services Laboratory,Illumina RCV000296590 SCV000477656 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081497 SCV000269713 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val327Ile in exon 10 of POMT1: This variant is not expected to have clinical s ignificance because it has been identified in 4.6% (399/8600) of European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/; dbSNP rs4740164).
PreventionGenetics RCV000081497 SCV000311765 benign not specified criteria provided, single submitter clinical testing

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