ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) (rs864309520)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000202647 SCV000257325 likely pathogenic Adrenoleukodystrophy 2015-10-19 no assertion criteria provided clinical testing This variation is not reported in 1000 genome database but found to be pathogenic by SIFT, Polyphen and Mutation Taster online software.

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