ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1440del (p.Ile481fs)

dbSNP: rs1557054318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507704 SCV000602343 pathogenic not specified 2017-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991474 SCV001142892 pathogenic not provided 2020-08-31 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
Genome-Nilou Lab RCV001800721 SCV002045829 pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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