Submissions for variant NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) (rs61751217)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229157	SCV000287163	benign	Charcot-Marie-Tooth disease axonal type 2F	2019-12-31	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000252630	SCV000307995	likely benign	not specified		criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000252630	SCV000342220	benign	not specified	2016-06-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000252630	SCV000513257	likely benign	not specified	2017-09-21	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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001282973	SCV001159623	likely benign	none provided	2020-04-07	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000229157	SCV001322691	benign	Charcot-Marie-Tooth disease axonal type 2F	2017-05-22	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina	RCV001160858	SCV001322693	benign	Distal hereditary motor neuronopathy type 2B	2017-05-22	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001172552	SCV001335614	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing