ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1413A>G (p.Glu471=)

gnomAD frequency: 0.00002  dbSNP: rs782035584
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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 RCV001476389 SCV001680597 likely benign Adrenoleukodystrophy 2025-01-12 criteria provided, single submitter clinical testing

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