ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)

gnomAD frequency: 0.00004  dbSNP: rs781900720
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502342 SCV000593004 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512675 SCV000609413 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Invitae RCV001239741 SCV001412637 likely benign Adrenoleukodystrophy 2023-10-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001239741 SCV002045614 likely benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000512675 SCV001799500 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000512675 SCV001966651 likely benign not provided no assertion criteria provided clinical testing

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