Submissions for variant NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)

gnomAD frequency: 0.84569  dbSNP: rs2064318

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080090	SCV000111985	benign	not specified	2013-08-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000317728	SCV000462706	benign	Retinitis pigmentosa	2018-01-13	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	RCV000353881	SCV000462707	benign	Leber congenital amaurosis 15	2018-01-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001511181	SCV000605512	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000987689	SCV001137106	benign	Leber congenital amaurosis 1	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001511181	SCV001718380	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001511181	SCV001940493	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000353881	SCV002514686	benign	Leber congenital amaurosis 15	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243706	SCV002514697	benign	Retinitis pigmentosa 14	2021-12-05	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888436	SCV004707291	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000080090	SCV001742633	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080090	SCV001956649	benign	not specified		no assertion criteria provided	clinical testing