Submissions for variant NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln)

gnomAD frequency: 0.00418  dbSNP: rs202103485

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756475	SCV000884304	uncertain significance	not provided	2023-09-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000756475	SCV001108107	likely benign	not provided	2025-01-26	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000756475	SCV001712880	uncertain significance	not provided	2022-11-11	criteria provided, single submitter	clinical testing	BS2, PP1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320463	SCV004024630	uncertain significance	not specified	2024-07-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756475	SCV004138159	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	PIEZO1: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000756475	SCV001978017	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000756475	SCV001978765	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967674	SCV004794355	likely benign	PIEZO1-related disorder	2019-07-23	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).