ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)

gnomAD frequency: 0.00047  dbSNP: rs782161942
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537259 SCV000630007 benign Adrenoleukodystrophy 2021-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716304 SCV000847144 likely benign History of neurodevelopmental disorder 2020-01-31 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient evidence;Subpopulation frequency in support of benign classification
Fulgent Genetics,Fulgent Genetics RCV000537259 SCV000897551 uncertain significance Adrenoleukodystrophy 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000537259 SCV001328018 uncertain significance Adrenoleukodystrophy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories,Mayo Clinic RCV001508971 SCV001715425 uncertain significance not provided 2021-02-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000537259 SCV002045625 likely benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001508971 SCV001958673 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001508971 SCV001966323 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000537259 SCV002084590 likely benign Adrenoleukodystrophy 2019-12-26 no assertion criteria provided clinical testing

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