ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs)

dbSNP: rs886042842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400462 SCV000336858 pathogenic not provided 2015-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365311 SCV002623840 pathogenic Inborn genetic diseases 2016-01-29 criteria provided, single submitter clinical testing The c.3883_3884delAG pathogenic mutation, located in coding exon 8 of the BCOR gene, results from a deletion of two nucleotides between nucleotide positions 3883 and 3884, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Donald Williams Parsons Laboratory, Baylor College of Medicine RCV000505675 SCV000599903 other Glioblastoma 2016-05-01 no assertion criteria provided clinical testing

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