ClinVar Miner

Submissions for variant NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) (rs201774661)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202845 SCV000257603 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354458 SCV000481974 likely benign Adrenoleukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000354458 SCV000803548 likely pathogenic Adrenoleukodystrophy 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Adrenoleukodystrophy, in X-linked Recessive manner. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (PMID:8651290) (PMID:17542813) (PMID:21966424).

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