ClinVar Miner

Submissions for variant NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) (rs150151955)

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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 RCV000718531 SCV000849395 benign History of neurodevelopmental disorder 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000426591 SCV000693370 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426591 SCV000511131 likely benign not provided 2016-10-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000539956 SCV000630013 benign Adrenoleukodystrophy 2017-12-13 criteria provided, single submitter clinical testing

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