ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1212G>A (p.Ser404=)

gnomAD frequency: 0.00002  dbSNP: rs375656638
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 RCV001464042 SCV001668004 likely benign Adrenoleukodystrophy 2023-03-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001464042 SCV002084630 likely benign Adrenoleukodystrophy 2021-10-11 no assertion criteria provided clinical testing

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