ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.515G>A (p.Arg172His)

gnomAD frequency: 0.00002  dbSNP: rs541171928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805426 SCV000945382 likely benign Adrenoleukodystrophy 2023-05-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000805426 SCV002084606 uncertain significance Adrenoleukodystrophy 2020-07-15 no assertion criteria provided clinical testing

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