ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1179A>G (p.Thr393=)

dbSNP: rs781904354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002103229 SCV002390073 likely benign Adrenoleukodystrophy 2024-02-15 criteria provided, single submitter clinical testing

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