Submissions for variant NM_015047.3(EMC1):c.2886C>T (p.Tyr962=)

gnomAD frequency: 0.00555  dbSNP: rs34350799

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000954836	SCV001101500	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502967	SCV002810265	likely benign	Cerebellar atrophy, visual impairment, and psychomotor retardation;	2021-09-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954836	SCV004123378	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	EMC1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000954836	SCV005286051	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700523	SCV001921844	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700523	SCV001970293	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533678	SCV004731691	benign	EMC1-related disorder	2019-11-20	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).