Submissions for variant NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)

gnomAD frequency: 0.10090  dbSNP: rs4732748

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145966	SCV000193111	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145966	SCV000305840	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020402	SCV000473239	benign	Roberts-SC phocomelia syndrome	2018-01-12	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	RCV000145966	SCV000728815	benign	not specified	2017-11-14	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	RCV001519925	SCV001728890	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543993	SCV001762917	benign	Juberg-Hayward syndrome	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020402	SCV001762918	benign	Roberts-SC phocomelia syndrome	2021-07-10	criteria provided, single submitter	clinical testing
GeneReviews	RCV000020402	SCV000040799	not provided	Roberts-SC phocomelia syndrome		no assertion provided	literature only
Natera, Inc.	RCV000020402	SCV001460453	benign	Roberts-SC phocomelia syndrome	2020-09-16	no assertion criteria provided	clinical testing