Submissions for variant NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe)

gnomAD frequency: 0.00528  dbSNP: rs145976466

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118219	SCV000152578	benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000435689	SCV000511258	likely benign	not provided	2016-09-20	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000118219	SCV000519591	benign	not specified	2017-03-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000435689	SCV001109675	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000435689	SCV004143255	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	RTTN: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003915166	SCV004728208	likely benign	RTTN-related condition	2019-04-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).