Submissions for variant NM_178857.6(RP1L1):c.407G>A (p.Arg136His)

gnomAD frequency: 0.00242  dbSNP: rs189960401

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000365874	SCV000471254	likely benign	Occult macular dystrophy	2017-04-27	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000585100	SCV000693267	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	RP1L1: BP4, BS2
Invitae	RCV000585100	SCV001023702	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002524540	SCV003677809	likely benign	Inborn genetic diseases	2021-11-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center	RCV001700016	SCV001921851	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000585100	SCV001965695	likely benign	not provided		no assertion criteria provided	clinical testing