ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) (rs111356679)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235479 SCV000292878 likely benign not specified 2017-09-14 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000235479 SCV000605366 uncertain significance not specified 2017-03-11 criteria provided, single submitter clinical testing
Invitae RCV001081716 SCV000642055 likely benign Hereditary motor and sensory neuropathy, Okinawa type; Spastic paraplegia 57, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000533138 SCV001154016 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing

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