ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)

gnomAD frequency: 0.00041  dbSNP: rs202125585
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001079452 SCV001018886 benign Adrenoleukodystrophy 2024-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000876325 SCV001150487 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ABCD1: BP4, BP7, BS2
Natera, Inc. RCV001079452 SCV002084657 likely benign Adrenoleukodystrophy 2020-02-04 no assertion criteria provided clinical testing

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