Submissions for variant NM_002160.4(TNC):c.1342C>G (p.Arg448Gly)

gnomAD frequency: 0.00442  dbSNP: rs145086096

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238633	SCV000297115	benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000892394	SCV001036262	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000892394	SCV001146203	likely benign	not provided	2018-09-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000892394	SCV001862698	benign	not provided	2020-01-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270076	SCV002554899	benign	Autosomal dominant nonsyndromic hearing loss 56	2022-03-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000892394	SCV005225449	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003977706	SCV004792330	benign	TNC-related disorder	2019-10-18	no assertion criteria provided	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).