ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1827+7A>G

gnomAD frequency: 0.10554  dbSNP: rs532747
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081309 SCV000113227 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081309 SCV000311169 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316339 SCV000373016 benign Glycogen storage disease, type V 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000316339 SCV001727472 benign Glycogen storage disease, type V 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000316339 SCV001749178 benign Glycogen storage disease, type V 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000509568 SCV001912641 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28967462)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000316339 SCV002049193 benign Glycogen storage disease, type V 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000509568 SCV005319067 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV000509568 SCV000607359 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Mayo Clinic Laboratories, Mayo Clinic RCV000509568 SCV000801329 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000316339 SCV002092314 benign Glycogen storage disease, type V 2021-06-03 no assertion criteria provided clinical testing

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