ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)

gnomAD frequency: 0.00016  dbSNP: rs141110958
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086228 SCV000754732 benign Adrenoleukodystrophy 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000633497 SCV001150488 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001086228 SCV002045775 likely benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413815 SCV002721990 benign Inborn genetic diseases 2017-08-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
Natera, Inc. RCV001086228 SCV001452886 benign Adrenoleukodystrophy 2020-09-16 no assertion criteria provided clinical testing

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