ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1865+11C>T

gnomAD frequency: 0.00004  dbSNP: rs781956636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508577 SCV000602341 likely benign not specified 2019-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527343 SCV003324544 likely benign Adrenoleukodystrophy 2024-09-04 criteria provided, single submitter clinical testing

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