Submissions for variant NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)

dbSNP: rs755226463

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001795651	SCV002047697	uncertain significance	not provided	2021-09-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002503281	SCV002775982	uncertain significance	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6	2022-05-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001795651	SCV003302417	likely benign	not provided	2025-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001795651	SCV003933469	uncertain significance	not provided	2022-04-07	criteria provided, single submitter	clinical testing	In-frame insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001795651	SCV002035023	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001795651	SCV002038055	uncertain significance	not provided		no assertion criteria provided	clinical testing