ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn)

dbSNP: rs2091753125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253465 SCV001429179 likely pathogenic Adrenoleukodystrophy 2022-07-20 criteria provided, single submitter clinical testing This variant was identified as hemizygous.

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