ClinVar Miner

Submissions for variant NM_194318.3(B3GLCT):c.733G>A (p.Val245Met) (rs34830061)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514548 SCV000610185 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000082791 SCV000258275 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082791 SCV000114835 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
Invitae RCV000537126 SCV000636678 benign Peters plus syndrome 2017-05-08 criteria provided, single submitter clinical testing

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