Submissions for variant NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)

gnomAD frequency: 0.00599  dbSNP: rs34830861

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000881821	SCV001025017	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000881821	SCV002049589	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000881821	SCV004138117	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	PIEZO1: BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000881821	SCV004227636	uncertain significance	not provided	2023-05-24	criteria provided, single submitter	clinical testing	BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000881821	SCV001800230	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701344	SCV001917379	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940438	SCV004754249	likely benign	PIEZO1-related disorder	2019-04-12	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).