ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.707G>A (p.Arg236His) (rs201455322)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716972 SCV000847817 benign History of neurodevelopmental disorder 2016-10-04 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173052 SCV000224132 uncertain significance not provided 2014-09-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395710 SCV000481966 likely benign Adrenoleukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000395710 SCV000782463 uncertain significance Adrenoleukodystrophy 2016-06-16 criteria provided, single submitter clinical testing

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