ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) (rs141933811)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243892 SCV000302843 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515011 SCV000610579 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001079808 SCV000636384 benign Non-ketotic hyperglycinemia 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000515011 SCV000842222 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000515011 SCV001155600 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001079808 SCV001328172 benign Non-ketotic hyperglycinemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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