ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.438G>A (p.Thr146=)

gnomAD frequency: 0.06458  dbSNP: rs13289273
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348463 SCV000480528 benign Glycine encephalopathy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000348463 SCV001717783 benign Glycine encephalopathy 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001643114 SCV001858073 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002230211 SCV002511412 benign not specified 2022-04-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001643114 SCV005273752 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000348463 SCV002075810 benign Glycine encephalopathy 2019-11-22 no assertion criteria provided clinical testing

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