Submissions for variant NM_006269.2(RP1):c.5377C>T (p.Pro1793Ser)

gnomAD frequency: 0.00086  dbSNP: rs143088423

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000762514	SCV000892841	likely benign	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Invitae	RCV000762514	SCV001119855	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163350	SCV001325376	benign	Retinitis pigmentosa	2017-05-12	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Clinical Genetics, Academic Medical Center	RCV001700457	SCV001919126	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000762514	SCV001971700	likely benign	not provided		no assertion criteria provided	clinical testing