ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del) (rs371983878)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718003 SCV000848864 likely benign History of neurodevelopmental disorder 2017-01-23 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Gharavi Laboratory,Columbia University RCV000722713 SCV000853844 uncertain significance not provided 2018-09-16 no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000722713 SCV001549699 uncertain significance not provided no assertion criteria provided clinical testing The RAI1 p.Gln286_Gln291del variant was not identified in the literature nor was it identified in dbSNP, Cosmic or LOVD 3.0. The variant was identified in ClinVar (classified as likely benign by Ambry Genetics). The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). This variant is an in-frame deletion resulting in the removal of a glutamine (gln) residue from codons 286-291; the impact of this alteration on RAI1 protein function is not known. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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