ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) (rs1569541088)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000710055 SCV000840436 pathogenic Adrenoleukodystrophy 2017-04-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710400 SCV000840612 pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing
Mendelics RCV000710055 SCV001142056 pathogenic Adrenoleukodystrophy 2019-05-28 criteria provided, single submitter clinical testing

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