Submissions for variant NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=)

dbSNP: rs369279313

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000953032	SCV001099577	benign	not provided	2024-01-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000953032	SCV002049853	likely benign	not provided	2022-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000953032	SCV004138138	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PIEZO1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000953032	SCV002034100	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000953032	SCV002038035	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935809	SCV004747500	likely benign	PIEZO1-related disorder	2019-12-11	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).