Submissions for variant NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)

gnomAD frequency: 0.00080  dbSNP: rs148703569

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000899321	SCV001043580	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
DBGen Ocular Genomics	RCV001593127	SCV001816005	benign	Retinitis pigmentosa	2021-05-31	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003141892	SCV003824970	uncertain significance	Microcornea-myopic chorioretinal atrophy	2019-03-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000899321	SCV005255152	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000899321	SCV001918173	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000899321	SCV001964507	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003910717	SCV004734843	likely benign	ADAMTS18-related disorder	2022-08-10	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).