ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.901-16C>T

gnomAD frequency: 0.00840  dbSNP: rs41302176
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077968 SCV000109797 benign not specified 2014-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000077968 SCV000301580 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000077968 SCV000715625 benign not specified 2017-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001519003 SCV001727798 benign Adrenoleukodystrophy 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001519003 SCV002045859 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001519003 SCV002800985 likely benign Adrenoleukodystrophy 2021-11-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001795051 SCV002034367 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795051 SCV002036624 likely benign not provided no assertion criteria provided clinical testing

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