Submissions for variant NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)

gnomAD frequency: 0.00051  dbSNP: rs117213221

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437059	SCV000525639	benign	not provided	2020-04-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31009165)
Santos-Cortez Lab, University of Colorado School of Medicine	RCV000768665	SCV000882557	uncertain significance	Otitis media, susceptibility to	2019-04-25	criteria provided, single submitter	research
Invitae	RCV000437059	SCV001003655	likely benign	not provided	2023-12-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002307496	SCV002600381	likely benign	not specified	2022-10-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942382	SCV004759869	benign	A2ML1-related condition	2019-10-16	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
University of Washington Center for Mendelian Genomics, University of Washington	RCV001261816	SCV001439145	uncertain significance	Otitis media		no assertion criteria provided	research