ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)

gnomAD frequency: 0.00005  dbSNP: rs367799134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720188 SCV000524368 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Mayo Clinic Laboratories, Mayo Clinic RCV000681640 SCV000809086 uncertain significance Adrenoleukodystrophy 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV000681640 SCV001724646 benign Adrenoleukodystrophy 2023-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000681640 SCV002045692 likely benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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