ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)

gnomAD frequency: 0.00001  dbSNP: rs782546330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626183 SCV000746822 uncertain significance Adrenoleukodystrophy 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000626183 SCV001725565 benign Adrenoleukodystrophy 2022-12-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000626183 SCV002045766 likely benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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