ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)

gnomAD frequency: 0.00028  dbSNP: rs782134465
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316064 SCV000847522 likely benign Inborn genetic diseases 2019-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000960344 SCV001107312 benign Adrenoleukodystrophy 2023-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000960344 SCV002045853 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000960344 SCV002084592 likely benign Adrenoleukodystrophy 2019-10-28 no assertion criteria provided clinical testing

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