Submissions for variant NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp)

gnomAD frequency: 0.00275  dbSNP: rs35374168

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177962	SCV000229927	likely benign	not specified	2015-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000515038	SCV000519846	likely benign	not provided	2020-07-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28518170)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515038	SCV000610954	likely benign	not provided	2017-06-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000515038	SCV001038657	benign	not provided	2025-01-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177962	SCV002067497	likely benign	not specified	2018-09-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516761	SCV003549067	likely benign	Inborn genetic diseases	2022-06-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000515038	SCV004143260	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	RTTN: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000515038	SCV005208345	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003977457	SCV004787303	likely benign	RTTN-related disorder	2020-02-13	no assertion criteria provided	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).