ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)

gnomAD frequency: 0.00002  dbSNP: rs782359412
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 RCV000804526 SCV000944440 likely benign Adrenoleukodystrophy 2023-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000804526 SCV001462920 uncertain significance Adrenoleukodystrophy 2020-09-16 no assertion criteria provided clinical testing

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