Submissions for variant NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)

gnomAD frequency: 0.00142  dbSNP: rs55698015

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725973	SCV000340926	uncertain significance	not provided	2016-05-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304579	SCV000362894	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000358004	SCV000362895	likely benign	COFS syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263243	SCV000362896	likely benign	Cockayne syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000725973	SCV000590359	uncertain significance	not provided	2023-08-28	criteria provided, single submitter	clinical testing	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000725973	SCV001019864	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000725973	SCV001714948	uncertain significance	not provided	2019-09-08	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725973	SCV003833588	uncertain significance	not provided	2020-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535380	SCV004744792	likely benign	ERCC6-related disorder	2023-04-27	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).