ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)

dbSNP: rs886044882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000307057 SCV000342993 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV002463361 SCV002757869 likely pathogenic Adrenoleukodystrophy 2022-08-23 criteria provided, single submitter clinical testing

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