ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) (rs79383557)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716049 SCV000846882 benign History of neurodevelopmental disorder 2016-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608121 SCV000734761 benign Adrenoleukodystrophy no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203152 SCV000257602 likely benign not specified 2015-02-13 criteria provided, single submitter clinical testing

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