Submissions for variant NM_001366110.1(PAX4):c.474C>T (p.Gly158=)

gnomAD frequency: 0.04703  dbSNP: rs77039439

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117894	SCV000152167	benign	not specified	2013-03-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117894	SCV000311404	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280185	SCV000466607	likely benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511815	SCV001719119	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117894	SCV001774644	benign	not specified	2021-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001511815	SCV001840207	benign	not provided	2018-08-30	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV000280185	SCV002506566	uncertain significance	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	This PAX4 gene is associated with MODY, however, no association is found between this particular variant (rs77039439) of PAX4 gene and MODY yet. It needs further validation via clinical studies.