ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*421A>G

gnomAD frequency: 0.00098  dbSNP: rs181566066
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351852 SCV000483757 likely benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394121 SCV000483758 likely benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001130379 SCV001289955 likely benign Glycogen storage disease due to muscle and heart glycogen synthase 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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