Submissions for variant NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)

gnomAD frequency: 0.00137  dbSNP: rs145720191

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174989	SCV000226404	uncertain significance	not provided	2017-05-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000397231	SCV000362830	likely benign	COFS syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307545	SCV000362831	likely benign	Cockayne syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364521	SCV000362832	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000174989	SCV001013406	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000174989	SCV001714946	uncertain significance	not provided	2022-11-25	criteria provided, single submitter	clinical testing	PP3
GeneDx	RCV000174989	SCV002072817	uncertain significance	not provided	2022-01-14	criteria provided, single submitter	clinical testing	Alters the last nucleotide of the exon and is predicted to destroy the splice donor site and result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000174989	SCV004184047	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ERCC6: PP3, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000174989	SCV001741045	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000174989	SCV001959095	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000174989	SCV002038064	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537372	SCV004751088	likely benign	ERCC6-related disorder	2022-10-27	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).