ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1290G>A (p.Ser430=) (rs752100338)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223036 SCV000271190 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing p.Ser430Ser in exon 8 of WFS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence It been identified in 2/66730 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs752100338).
Illumina Clinical Services Laboratory,Illumina RCV000404067 SCV000450605 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311096 SCV000450606 uncertain significance WFS1-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing

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