Submissions for variant NM_001540.5(HSPB1):c.573T>C (p.Leu191=)

gnomAD frequency: 0.00170  dbSNP: rs34771861

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697817	SCV000526226	likely benign	not provided	2020-10-22	criteria provided, single submitter	clinical testing
Invitae	RCV000475381	SCV000561800	benign	Charcot-Marie-Tooth disease axonal type 2F	2024-01-24	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172563	SCV001335625	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000439558	SCV001879775	benign	not specified	2020-11-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348197	SCV002650685	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001697817	SCV004563403	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing