ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.281+13T>G

gnomAD frequency: 0.19395  dbSNP: rs34241758
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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) RCV000077943 SCV000109772 benign not specified 2012-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000077943 SCV000301559 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355014 SCV000448738 likely benign Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000077943 SCV000538241 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000355014 SCV000745000 benign Aspartylglucosaminuria 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000355014 SCV001731967 benign Aspartylglucosaminuria 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000355014 SCV001762525 benign Aspartylglucosaminuria 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675819 SCV001892054 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675819 SCV005256748 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000355014 SCV000734330 benign Aspartylglucosaminuria no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675819 SCV000801541 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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