Submissions for variant NM_001368894.2(PAX6):c.808-12C>T

gnomAD frequency: 0.05916  dbSNP: rs667773

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248742	SCV000308000	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000248742	SCV000335500	benign	not specified	2015-10-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382578	SCV000371119	benign	Aniridia, Cerebellar Ataxia, And Intellectual Disability	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269341	SCV000371120	benign	Autosomal dominant keratitis	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000329038	SCV000371121	benign	Anophthalmia-microphthalmia syndrome	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000383559	SCV000371122	benign	carboxymethyl-dextran-A2-gadolinium-DOTA	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000284718	SCV000371123	benign	Aniridia 1	2017-04-27	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. 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.
Illumina Laboratory Services, Illumina	RCV000339789	SCV000371124	benign	Foveal hypoplasia 1	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000380248	SCV000371125	benign	11p partial monosomy syndrome	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512870	SCV001720360	benign	Aniridia 1; Irido-corneo-trabecular dysgenesis	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001683027	SCV001902402	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19390808, 18776953, 12868034, 9727514, 27884173)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226702	SCV002505494	uncertain significance	Abnormality of refraction		criteria provided, single submitter	research	Mutations in PAX6 can predispose to neonatal diabetes along with extra pancreatic manifestation of optic abnormalities. However, no sufficient evidence was found for the role of rs667773 variant in Diabetes Mellitus yet.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248742	SCV001742853	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000248742	SCV001807725	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000248742	SCV001917925	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000248742	SCV001928941	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000248742	SCV001972617	benign	not specified		no assertion criteria provided	clinical testing