Submissions for variant NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)

gnomAD frequency: 0.00323  dbSNP: rs57479434

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000390321	SCV000473250	likely benign	Roberts-SC phocomelia syndrome	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Eurofins Ntd Llc (ga)	RCV000591384	SCV000703771	benign	not specified	2016-12-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973416	SCV001121173	likely benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000973416	SCV001947289	benign	not provided	2019-07-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488814	SCV002798033	likely benign	Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome	2021-10-13	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000390321	SCV001456777	benign	Roberts-SC phocomelia syndrome	2020-01-06	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922630	SCV004741021	benign	ESCO2-related disorder	2020-01-02	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).