ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)

gnomAD frequency: 0.00001  dbSNP: rs200849757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000681650 SCV000809096 uncertain significance Adrenoleukodystrophy 2018-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000681650 SCV000956897 likely benign Adrenoleukodystrophy 2024-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000681650 SCV002045787 uncertain significance Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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