ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) (rs150151955)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 RCV000426591 SCV000630013 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000426591 SCV000693370 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718531 SCV000849395 benign History of neurodevelopmental disorder 2017-09-12 criteria provided, single submitter clinical testing 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
Mendelics RCV000990974 SCV001142050 likely benign Adrenoleukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001199 SCV001158359 likely benign not specified 2019-04-08 criteria provided, single submitter clinical testing

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