Submissions for variant NM_000360.4(TH):c.684G>A (p.Glu228=)

gnomAD frequency: 0.00706  dbSNP: rs11564716

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000339212	SCV000291898	benign	Autosomal recessive DOPA responsive dystonia	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000362807	SCV000342333	benign	not specified	2016-05-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000339212	SCV000369919	benign	Autosomal recessive DOPA responsive dystonia	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001532622	SCV000724033	likely benign	not provided	2021-04-23	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000339212	SCV000745019	likely benign	Autosomal recessive DOPA responsive dystonia	2015-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532622	SCV001748266	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TH: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001532622	SCV005223152	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000339212	SCV000733019	likely benign	Autosomal recessive DOPA responsive dystonia		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000339212	SCV002093557	benign	Autosomal recessive DOPA responsive dystonia	2019-10-18	no assertion criteria provided	clinical testing