ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1489-6del

dbSNP: rs398123101
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077952 SCV000109781 benign not specified 2013-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000077952 SCV000301578 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367227 SCV000481971 likely benign Adrenoleukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000077952 SCV000612229 benign not specified 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV000367227 SCV000629985 benign Adrenoleukodystrophy 2024-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000367227 SCV001142054 benign Adrenoleukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001705720 SCV001858148 benign not provided 2020-06-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14556192, 24788897, 16996397, 22995991, 23835273)
Genome-Nilou Lab RCV000367227 SCV002045870 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000367227 SCV002795250 benign Adrenoleukodystrophy 2022-03-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001705720 SCV001924168 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001705720 SCV001976061 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001705720 SCV001979774 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000367227 SCV002084641 benign Adrenoleukodystrophy 2019-12-24 no assertion criteria provided clinical testing

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