ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.446C>G (p.Thr149Ser)

gnomAD frequency: 0.92759  dbSNP: rs2228119
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077944 SCV000109773 benign not specified 2012-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000077944 SCV000301561 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394488 SCV000448736 benign Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000077944 SCV000538240 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 RCV000394488 SCV000744998 benign Aspartylglucosaminuria 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000675818 SCV000971127 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000394488 SCV001136793 benign Aspartylglucosaminuria 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000394488 SCV001723558 benign Aspartylglucosaminuria 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000394488 SCV001762524 benign Aspartylglucosaminuria 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675818 SCV005304495 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000394488 SCV000734328 benign Aspartylglucosaminuria no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675818 SCV000801540 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000394488 SCV001457094 benign Aspartylglucosaminuria 2020-09-16 no assertion criteria provided clinical testing

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