Submissions for variant NM_000360.4(TH):c.1200+9C>T

gnomAD frequency: 0.01045  dbSNP: rs11564717

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253406	SCV000317142	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289760	SCV000483272	likely benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000325988	SCV000483273	likely benign	Transient Neonatal Diabetes, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625349	SCV000563356	benign	Autosomal recessive DOPA responsive dystonia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000253406	SCV000729193	benign	not specified	2017-08-03	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625349	SCV000745016	likely benign	Autosomal recessive DOPA responsive dystonia	2015-09-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625349	SCV001265809	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.
Athena Diagnostics	RCV000253406	SCV001474915	benign	not specified	2020-04-28	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002251450	SCV002520723	uncertain significance	Generalized dystonia		criteria provided, single submitter	research	TH gene mutations are associated with dystonias. However, more studies are required to ascertain the role of this particular variant (rs11564717) in triggering dystonia.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625349	SCV000745782	likely benign	Autosomal recessive DOPA responsive dystonia	2016-04-19	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000625349	SCV001459705	benign	Autosomal recessive DOPA responsive dystonia	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795468	SCV002035724	likely benign	not provided		no assertion criteria provided	clinical testing