ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1750C>T (p.Pro584Ser)

gnomAD frequency: 0.00002  dbSNP: rs1001664445
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Total submissions: 2
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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 RCV000439392 SCV000510726 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Natera, Inc. RCV001273727 SCV001457127 uncertain significance Non-ketotic hyperglycinemia 2020-09-16 no assertion criteria provided clinical testing

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