ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)

gnomAD frequency: 0.00003  dbSNP: rs782720024
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
Invitae RCV000946132 SCV001092233 benign Adrenoleukodystrophy 2023-12-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000946132 SCV002084602 likely benign Adrenoleukodystrophy 2020-12-27 no assertion criteria provided clinical testing

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