Submissions for variant NM_000360.4(TH):c.977+8C>G

gnomAD frequency: 0.27597  dbSNP: rs12419447

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250457	SCV000317141	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000250457	SCV000341667	benign	not specified	2016-05-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278788	SCV000369915	benign	Autosomal recessive DOPA responsive dystonia	2018-01-12	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.
Athena Diagnostics Inc	RCV000710269	SCV000677518	benign	not provided	2017-04-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000278788	SCV000745017	benign	Autosomal recessive DOPA responsive dystonia	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000278788	SCV001726102	benign	Autosomal recessive DOPA responsive dystonia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000278788	SCV001754947	benign	Autosomal recessive DOPA responsive dystonia	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000710269	SCV001884234	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000278788	SCV000745783	benign	Autosomal recessive DOPA responsive dystonia	2015-02-07	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000278788	SCV001463811	benign	Autosomal recessive DOPA responsive dystonia	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250457	SCV001951340	benign	not specified		no assertion criteria provided	clinical testing