ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)

gnomAD frequency: 0.00019  dbSNP: rs150878397
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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 RCV002314578 SCV000848348 likely benign Inborn genetic diseases 2016-11-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001085582 SCV001053098 likely benign Adrenoleukodystrophy 2023-12-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000908342 SCV001142893 benign not provided 2018-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001085582 SCV002045868 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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