ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) (rs117985576)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000443667 SCV000843346 likely benign not provided 2017-11-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443667 SCV000511233 uncertain significance not provided 2016-08-19 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192982 SCV000113415 likely benign not specified 2015-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515174 SCV000611504 uncertain significance 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 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000192982 SCV000514251 likely benign not specified 2017-09-19 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.
Genetic Services Laboratory, University of Chicago RCV000192982 SCV000248583 uncertain significance not specified 2015-06-02 criteria provided, single submitter clinical testing
Invitae RCV000540002 SCV000649881 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000192982 SCV000311735 likely benign not specified criteria provided, single submitter clinical testing

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