Submissions for variant NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)

gnomAD frequency: 0.00011  dbSNP: rs373049356

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086445	SCV000761749	likely benign	Charcot-Marie-Tooth disease axonal type 2L	2025-01-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000761845	SCV000892049	uncertain significance	not provided	2018-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000761845	SCV001769605	likely benign	not provided	2019-07-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31902012)
Revvity Omics, Revvity	RCV000761845	SCV003811259	uncertain significance	not provided	2022-02-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004025592	SCV004883645	likely benign	Inborn genetic diseases	2023-02-21	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.
Athena Diagnostics	RCV005000427	SCV005622467	likely benign	not specified	2024-09-10	criteria provided, single submitter	clinical testing