Submissions for variant NM_001540.5(HSPB1):c.438C>T (p.Pro146=)

gnomAD frequency: 0.00049  dbSNP: rs7805625

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000609281	SCV000728301	likely benign	not specified	2018-03-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000863768	SCV001004480	likely benign	Charcot-Marie-Tooth disease axonal type 2F	2023-12-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000609281	SCV001879774	benign	not specified	2020-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002275099	SCV002563958	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	HSPB1: BS1, BS2
Ambry Genetics	RCV002331083	SCV002629087	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.