ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)

dbSNP: rs1557055405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000625957 SCV000746555 likely pathogenic Adrenoleukodystrophy 2017-11-30 criteria provided, single submitter clinical testing Segregates among all 5 affected family members. Males have earlier onset than females.

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