ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn)

gnomAD frequency: 0.00044  dbSNP: rs114649884
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791014 SCV000930279 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535824 SCV003513723 benign not provided 2022-08-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002535824 SCV005193236 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004540100 SCV004763005 likely benign PIEZO2-related disorder 2023-01-27 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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