ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)

gnomAD frequency: 0.00088  dbSNP: rs202195978
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872653 SCV001014503 benign Adrenoleukodystrophy 2024-01-31 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000872653 SCV002059438 uncertain significance Adrenoleukodystrophy 2018-09-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872653 SCV002084617 likely benign Adrenoleukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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