ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) (rs140115896)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193399 SCV000248920 likely benign not specified 2015-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000193399 SCV000516321 benign not specified 2016-03-16 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 RCV001083927 SCV000561161 benign Creatine transporter deficiency 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716873 SCV000847717 benign History of neurodevelopmental disorder 2016-08-29 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
Athena Diagnostics Inc RCV000461931 SCV001145704 benign not provided 2019-04-25 criteria provided, single submitter clinical testing

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