Submissions for variant NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)

gnomAD frequency: 0.00240  dbSNP: rs531879999

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000384631	SCV000331787	uncertain significance	not provided	2017-02-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000384631	SCV001153325	uncertain significance	not provided	2017-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000384631	SCV001818400	uncertain significance	not provided	2021-03-04	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago	RCV001726084	SCV002067957	likely benign	not specified	2020-04-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000384631	SCV002383160	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000384631	SCV002542014	uncertain significance	not provided	2018-12-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000384631	SCV001927490	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726084	SCV001964302	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930041	SCV004743451	likely benign	SPEG-related disorder	2019-05-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).