ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1500dup (p.Met501fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003512234 SCV004244563 likely pathogenic Adrenoleukodystrophy 2023-12-18 criteria provided, single submitter clinical testing PVS1, PM2

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