ClinVar Miner

Submissions for variant NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu)

gnomAD frequency: 0.00037  dbSNP: rs199604489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263956 SCV002546040 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing PTPRS: PP2, BP4
Center for Statistical Genetics, Columbia University RCV000754561 SCV000853299 uncertain significance Hearing impairment 2018-10-08 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000754561 SCV001439105 uncertain significance Hearing impairment no assertion criteria provided research

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