ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) (rs1557055337)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000761218 SCV000891172 likely pathogenic Adrenoleukodystrophy 2018-08-16 criteria provided, single submitter clinical testing

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