ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.8492G>T (p.Arg2831Leu)

dbSNP: rs587777452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000125480 SCV000168932 pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2014-05-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000125480 SCV000281714 pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2014-06-04 no assertion criteria provided research

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