Submissions for variant NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His)

gnomAD frequency: 0.00019  dbSNP: rs373973800

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000585317	SCV000692927	uncertain significance	not provided	2017-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000585317	SCV001994633	uncertain significance	not provided	2021-01-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000585317	SCV002125937	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002530844	SCV003680074	likely benign	Inborn genetic diseases	2022-11-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.