Submissions for variant NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del)

dbSNP: rs59446030

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001507362	SCV000604655	benign	not provided	2024-11-15	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001507362	SCV001712882	uncertain significance	not provided	2023-06-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001507362	SCV001859988	benign	not provided	2019-10-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32265284, 30237267, 30105803, 29576450)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507362	SCV002447871	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
OMIM	RCV002294339	SCV000787621	pathogenic	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	2019-10-21	no assertion criteria provided	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573929	SCV001800499	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001573929	SCV001920551	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573929	SCV001973673	benign	not specified		no assertion criteria provided	clinical testing