ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)

gnomAD frequency: 0.00006  dbSNP: rs782157913
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001346480 SCV001519091 likely pathogenic Adrenoleukodystrophy 2021-01-04 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001346480 SCV001540688 likely benign Adrenoleukodystrophy 2024-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001346480 SCV002045780 uncertain significance Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001346480 SCV002084663 uncertain significance Adrenoleukodystrophy 2020-05-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953665 SCV004767208 likely benign ABCD1-related disorder 2023-12-06 no assertion criteria provided 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).

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