ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2112G>A (p.Ala704=)

gnomAD frequency: 0.00046  dbSNP: rs372309740
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633495 SCV000754730 benign Adrenoleukodystrophy 2025-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432663 SCV004167138 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ABCD1: BP4, BP7, BS2

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