Submissions for variant NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)

gnomAD frequency: 0.53959  dbSNP: rs7158

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117006	SCV000312609	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000603781	SCV000480164	benign	Pontocerebellar hypoplasia type 1B	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000117006	SCV000519320	benign	not specified	2016-01-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000603781	SCV001729763	benign	Pontocerebellar hypoplasia type 1B	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000603781	SCV001934062	benign	Pontocerebellar hypoplasia type 1B	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004712045	SCV005265694	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117006	SCV000151127	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603781	SCV000734697	benign	Pontocerebellar hypoplasia type 1B		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117006	SCV001924556	benign	not specified		no assertion criteria provided	clinical testing