Submissions for variant NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)

gnomAD frequency: 0.00748  dbSNP: rs61745086

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757610	SCV000885904	likely benign	not provided	2024-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000757610	SCV001096778	benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000757610	SCV001715156	uncertain significance	not provided	2023-02-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320210	SCV004024293	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757610	SCV004138116	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	PIEZO1: PP3, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000757610	SCV001800667	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000757610	SCV001927796	likely benign	not provided		no assertion criteria provided	clinical testing