ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2113G>A (p.Val705Met) (rs147275962)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086012 SCV000636374 benign Non-ketotic hyperglycinemia 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711816 SCV000842220 benign not provided 2017-12-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086012 SCV001329993 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 RCV000711816 SCV001371470 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000711816 SCV001893901 benign not provided 2018-10-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28116331, 27362913, 27884173, 16601880)
Natera, Inc. RCV001086012 SCV001462756 benign Non-ketotic hyperglycinemia 2020-01-11 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701032 SCV001926793 benign not specified no assertion criteria provided clinical testing

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