ClinVar Miner

Submissions for variant NM_004037.7(AMPD2):c.1569+3A>G (rs41280332)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513569 SCV000608491 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513569 SCV000610460 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502839 SCV000593133 uncertain significance not specified 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000526702 SCV000655093 likely benign Spastic paraplegia 63, autosomal recessive; Pontocerebellar hypoplasia, type 9 2017-11-17 criteria provided, single submitter clinical testing

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