ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.498T>C (p.Pro166=) (rs150193069)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245433 SCV000302846 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001083509 SCV000636406 benign Non-ketotic hyperglycinemia 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711820 SCV000842225 benign not provided 2017-11-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001083509 SCV001330749 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000711820 SCV001748284 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000711820 SCV001779061 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27617160)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000711820 SCV001929522 likely benign not provided no assertion criteria provided clinical testing

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