ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.501G>A (p.Glu167=)

gnomAD frequency: 0.22564  dbSNP: rs35374927
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250786 SCV000302847 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389725 SCV000480526 benign Glycine encephalopathy 2018-01-13 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.
Athena Diagnostics RCV000711821 SCV000842226 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000389725 SCV001717517 benign Glycine encephalopathy 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000711821 SCV001759193 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000389725 SCV001762831 benign Glycine encephalopathy 2021-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000389725 SCV002797964 benign Glycine encephalopathy 2021-09-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711821 SCV005273749 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000389725 SCV001458171 benign Glycine encephalopathy 2020-09-16 no assertion criteria provided clinical testing

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