ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1338G>A (p.Gly446=)

gnomAD frequency: 0.00243  dbSNP: rs150378513
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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 RCV000396042 SCV000379103 likely benign Glycogen storage disease, type VII 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000396042 SCV000884302 likely benign Glycogen storage disease, type VII 2023-03-29 criteria provided, single submitter clinical testing
Invitae RCV000396042 SCV001023117 benign Glycogen storage disease, type VII 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756473 SCV001747061 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PFKM: BP4, BP7
GeneDx RCV000756473 SCV001818647 likely benign not provided 2021-08-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000396042 SCV001458712 benign Glycogen storage disease, type VII 2020-09-16 no assertion criteria provided clinical testing

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