ClinVar Miner

Submissions for variant NM_001244710.1(GFPT1):c.675C>T (p.Leu225=) (rs78952091)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117142 SCV000151303 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117142 SCV000307111 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379256 SCV000431578 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000117142 SCV000519878 benign not specified 2016-10-18 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.
Invitae RCV000556135 SCV000652548 benign Congenital myasthenic syndrome 12 2017-08-04 criteria provided, single submitter clinical testing

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