ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.2181G>A (p.Ser727=) (rs76092524)

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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 RCV000712823 SCV000843358 benign not provided 2018-02-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000253981 SCV000113419 benign not specified 2016-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000253981 SCV000517408 likely benign not specified 2017-06-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000285946 SCV000477679 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560856 SCV000649894 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-11-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000253981 SCV000311753 likely benign not specified criteria provided, single submitter clinical testing

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