ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.901-5C>T

gnomAD frequency: 0.00015  dbSNP: rs782603062
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874643 SCV001016840 benign Adrenoleukodystrophy 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000377 SCV001157136 benign not specified 2018-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001552172 SCV001772819 likely benign not provided 2021-06-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000874643 SCV002045861 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372483 SCV002683501 benign Inborn genetic diseases 2018-01-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003930416 SCV004740882 likely benign ABCD1-related disorder 2019-08-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000874643 SCV001466686 likely benign Adrenoleukodystrophy 2020-08-12 no assertion criteria provided clinical testing

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