ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.381G>A (p.Thr127=)

gnomAD frequency: 0.12385  dbSNP: rs3815076
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253820 SCV000315725 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261560 SCV000403126 benign Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000253820 SCV000539213 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV000261560 SCV001717896 benign Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001689929 SCV001907140 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689929 SCV005253330 benign not provided criteria provided, single submitter not provided

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