Submissions for variant NM_000327.4(ROM1):c.342C>T (p.Leu114=)

gnomAD frequency: 0.00049  dbSNP: rs537377404

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000396591	SCV000337874	likely benign	not specified	2015-12-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105713	SCV001262709	benign	Retinitis pigmentosa	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517649	SCV001726187	benign	not provided	2023-09-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920088	SCV004728293	likely benign	ROM1-related disorder	2019-05-06	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).