Submissions for variant NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)

gnomAD frequency: 0.00038  dbSNP: rs121912553

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951177	SCV001097547	benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000015962	SCV001324950	uncertain significance	Leber congenital amaurosis 11	2018-11-27	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.
Dept Of Ophthalmology, Nagoya University	RCV003887873	SCV004704798	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
OMIM	RCV000015962	SCV000036229	pathogenic	Leber congenital amaurosis 11	2006-01-01	no assertion criteria provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000951177	SCV001956121	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000951177	SCV001967110	uncertain significance	not provided		no assertion criteria provided	clinical testing