ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)

dbSNP: rs755804651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics, Columbia University RCV000679817 SCV000804808 pathogenic Deafness 2018-09-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291335 SCV001479809 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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