Submissions for variant NM_018418.4(SPATA7):c.20_23del

dbSNP: rs527236050

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000132678	SCV001135073	benign	not provided	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519764	SCV001728691	benign	Leber congenital amaurosis 3	2023-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000132678	SCV001773659	pathogenic	not provided	2023-01-03	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30029497, 33090715, 28966547, 21602930, 31908400)
Revvity Omics, Revvity	RCV001519764	SCV002023621	likely pathogenic	Leber congenital amaurosis 3	2022-11-11	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888567	SCV004707762	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV004544304	SCV004797395	likely benign	SPATA7-related disorder	2019-05-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132678	SCV000172630	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.