ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) (rs143916832)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081986 SCV000288958 benign Creatine transporter deficiency 2019-12-31 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239091 SCV000297191 benign not specified 2015-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000239091 SCV000516298 likely benign not specified 2017-12-14 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.
Genetic Services Laboratory, University of Chicago RCV000239091 SCV000597117 benign not specified 2016-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717236 SCV000848085 benign History of neurodevelopmental disorder 2016-09-02 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000239091 SCV000864325 benign not specified 2017-06-30 criteria provided, single submitter clinical testing BS1, BS2, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Athena Diagnostics Inc RCV000230375 SCV001145705 benign not provided 2019-05-17 criteria provided, single submitter clinical testing

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