ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val)

gnomAD frequency: 0.00004  dbSNP: rs1432758988
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557311 SCV000629986 likely benign Adrenoleukodystrophy 2023-12-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529574 SCV001743235 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529574 SCV001952851 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529574 SCV001966030 uncertain significance not provided no assertion criteria provided clinical testing

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