Submissions for variant NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)

gnomAD frequency: 0.21790  dbSNP: rs10151259

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174586	SCV000225907	benign	not specified	2014-06-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174586	SCV000313487	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272533	SCV000385415	benign	Leber congenital amaurosis 6	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000005275	SCV000385416	benign	Cone-rod dystrophy 13	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000174586	SCV000514417	benign	not specified	2016-10-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000989171	SCV001139391	benign	Leber congenital amaurosis 1	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000086240	SCV001159042	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Invitae	RCV001511545	SCV001718814	benign	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000174586	SCV002050726	likely benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV000005275	SCV002503621	benign	Cone-rod dystrophy 13	2023-03-30	criteria provided, single submitter	clinical testing	Population allele frequency is 20% (rs10151259, 56,258/275,596 alleles in gnomAD v2.0.2). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
OMIM	RCV000005275	SCV000025453	pathogenic	Cone-rod dystrophy 13	2003-08-01	no assertion criteria provided	literature only
GeneReviews	RCV000005275	SCV000086984	not provided	Cone-rod dystrophy 13		no assertion provided	literature only
Retina International	RCV000086240	SCV000118386	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000174586	SCV001743023	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000174586	SCV001921929	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000174586	SCV001930399	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000174586	SCV001958471	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000174586	SCV001974794	benign	not specified		no assertion criteria provided	clinical testing