ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) (rs199635059)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202681 SCV000258026 likely benign not specified 2015-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000202681 SCV000523598 likely benign not specified 2017-12-05 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.
Invitae RCV001083541 SCV000561174 benign Creatine transporter deficiency 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719166 SCV000850032 benign History of neurodevelopmental disorder 2017-12-27 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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000476830 SCV001150483 likely benign not provided 2019-07-01 criteria provided, single submitter clinical testing

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