ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)

gnomAD frequency: 0.00001  dbSNP: rs781970988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433948 SCV000528753 uncertain significance not provided 2020-01-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001835799 SCV003258266 likely benign Adrenoleukodystrophy 2025-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835799 SCV002084614 uncertain significance Adrenoleukodystrophy 2019-10-28 no assertion criteria provided clinical testing

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