Submissions for variant NM_001195248.2(APTX):c.596G>A (p.Arg199His)

gnomAD frequency: 0.00598  dbSNP: rs150886026

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514430	SCV000610285	likely benign	not provided	2017-02-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000596207	SCV000708033	likely benign	not specified	2017-05-01	criteria provided, single submitter	clinical testing
Invitae	RCV000514430	SCV001029699	benign	not provided	2024-01-13	criteria provided, single submitter	clinical testing
Mendelics	RCV000988172	SCV001137795	benign	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000596207	SCV001475540	benign	not specified	2020-03-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514430	SCV004157649	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	APTX: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003927837	SCV004747114	benign	APTX-related condition	2020-06-22	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).