ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) (rs28910273)

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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 RCV000224032 SCV000575375 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224032 SCV000281317 likely benign not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000432011 SCV000512216 likely benign not specified 2016-03-14 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.
Genetic Services Laboratory, University of Chicago RCV000432011 SCV000192405 likely benign not specified 2016-01-15 criteria provided, single submitter clinical testing

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