ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.4514+32C>T

gnomAD frequency: 0.64387  dbSNP: rs8093389
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001689111 SCV001913878 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788808 SCV002029787 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788807 SCV002029788 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788806 SCV002029790 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788809 SCV002029791 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689111 SCV005250617 benign not provided criteria provided, single submitter not provided

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