ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.2112T>C (p.Ala704=)

gnomAD frequency: 0.00531  dbSNP: rs35110875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175170 SCV000226609 benign not specified 2015-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264572 SCV000386915 benign Glycogen storage disease, type VI 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.
Invitae RCV000264572 SCV000752195 benign Glycogen storage disease, type VI 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000264572 SCV002796593 benign Glycogen storage disease, type VI 2021-08-23 criteria provided, single submitter clinical testing

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