ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.660C>T (p.Leu220=)

gnomAD frequency: 0.07130  dbSNP: rs2228095
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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 RCV000325849 SCV000480525 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 RCV000516601 SCV000613530 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000325849 SCV000636415 benign Glycine encephalopathy 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001540078 SCV001757918 benign not provided 2018-07-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16601880)
Breakthrough Genomics, Breakthrough Genomics RCV001540078 SCV005273745 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000325849 SCV001458168 benign Glycine encephalopathy 2020-09-16 no assertion criteria provided clinical testing

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