Submissions for variant NM_006269.2(RP1):c.228C>T (p.Leu76=)

gnomAD frequency: 0.00073  dbSNP: rs142600056

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153846	SCV000203429	uncertain significance	not provided	2014-04-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000153846	SCV001046586	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002259	SCV001160135	likely benign	Retinitis pigmentosa 1	2018-07-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001158394	SCV001320031	uncertain significance	Retinitis pigmentosa	2017-06-09	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000153846	SCV002586227	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	RP1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV001698978	SCV001924406	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153846	SCV001975625	likely benign	not provided		no assertion criteria provided	clinical testing