ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1494C>T (p.Pro498=)

gnomAD frequency: 0.03592  dbSNP: rs11231865
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081307 SCV000113225 benign not specified 2013-05-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081307 SCV000311165 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000128550 SCV000373017 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.
Invitae RCV000128550 SCV000626781 benign Glycogen storage disease, type V 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000675633 SCV001837435 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
GeneReviews RCV000128550 SCV000172193 not provided Glycogen storage disease, type V no assertion provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000675633 SCV000801334 benign not provided 2017-05-24 no assertion criteria provided clinical testing
Natera, Inc. RCV000128550 SCV001461279 benign Glycogen storage disease, type V 2020-09-16 no assertion criteria provided clinical testing

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