ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) (rs10778148)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082189 SCV000114135 benign not specified 2014-05-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082189 SCV000314276 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268458 SCV000375422 benign I cell disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301696 SCV000375423 benign Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585918 SCV000699450 benign not provided 2016-10-10 criteria provided, single submitter clinical testing Variant summary: The GNPTAB c.1932A>G (p.Thr644Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 71424/121364 control chromosomes (21589 homozygotes) at a frequency of 0.5885106, indicating it is the major allele and a benign polymorphism. Multiple clinical labs have classified the variant as benign. Due to the high population frequency of this vairant, it has been classified as benign.
GeneDx RCV000585918 SCV000969489 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000585918 SCV000800949 benign not provided 2017-05-16 no assertion criteria provided clinical testing

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