ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1185C>G (p.Val395=)

dbSNP: rs1801206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825690 SCV000967128 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val395Val in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 50.0% (49/98) of chrom osomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/proj ects/SNP; rs1801206).

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