ClinVar Miner

Submissions for variant NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) (rs141246107)

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Total submissions: 3
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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 RCV000224719 SCV000281403 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238619 SCV000296923 uncertain significance not specified 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV000638287 SCV000759781 benign Non-ketotic hyperglycinemia 2017-10-19 criteria provided, single submitter clinical testing

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