ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)

gnomAD frequency: 0.00076  dbSNP: rs200276831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500563 SCV000596422 uncertain significance not specified 2017-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765400 SCV000896676 uncertain significance Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003698793 SCV004463351 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541565 SCV004779505 likely benign PIEZO2-related disorder 2022-03-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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