Submissions for variant NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr)

gnomAD frequency: 0.00478  dbSNP: rs79992793

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243095	SCV000313920	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000436897	SCV000511527	likely benign	not provided	2016-09-14	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000436897	SCV001100311	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000436897	SCV001912448	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000436897	SCV004564868	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000436897	SCV005217105	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000436897	SCV001799164	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000436897	SCV001925485	likely benign	not provided		no assertion criteria provided	clinical testing