ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) (rs138198461)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000400583 SCV000433021 uncertain significance Congenital dyserythropoietic anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000736084 SCV000864350 likely benign not specified 2017-05-04 criteria provided, single submitter clinical testing BS1, BP7; This alteration has an allele frequency that is greater than expected for the associated disease, and is a synonymous alteration with no predicted impact on splicing and/or occurring at a non-evolutionarily conserved nucleotide position.
Invitae RCV000878440 SCV001021349 benign not provided 2019-02-08 criteria provided, single submitter clinical testing

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