ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.3756_3757+2del

dbSNP: rs2143842283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784837 SCV002018794 pathogenic not provided 2020-06-30 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002273833 SCV002558754 likely pathogenic Arthrogryposis, distal, with impaired proprioception and touch 2022-08-05 criteria provided, single submitter clinical testing homozygot

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