ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.414C>A (p.Leu138=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002741202 SCV003014423 likely benign Adrenoleukodystrophy 2023-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546741 SCV005041076 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing ABCD1: BP4, BP7

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