ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.7434G>A (p.Trp2478Ter)

dbSNP: rs2510256104
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326705 SCV003927913 likely pathogenic Arthrogryposis, distal, with impaired proprioception and touch 2023-04-01 no assertion criteria provided clinical testing

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