ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.707G>A (p.Arg236His) (rs201455322)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173052 SCV000224132 uncertain significance not provided 2014-09-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395710 SCV000481966 likely benign Adrenoleukodystrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000395710 SCV000782463 uncertain significance Adrenoleukodystrophy 2016-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716972 SCV000847817 benign History of neurodevelopmental disorder 2016-10-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000395710 SCV001015677 benign Adrenoleukodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000395710 SCV001142049 likely benign Adrenoleukodystrophy 2019-05-28 criteria provided, single submitter clinical testing

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