Submissions for variant NM_000360.4(TH):c.186G>A (p.Ser62=)

gnomAD frequency: 0.02696  dbSNP: rs34510659

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245352	SCV000317143	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000260953	SCV000369932	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000260953	SCV000626056	benign	Autosomal recessive DOPA responsive dystonia	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713849	SCV000844487	benign	not provided	2018-06-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000713849	SCV001900265	benign	not provided	2018-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000713849	SCV005321305	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000260953	SCV001463825	benign	Autosomal recessive DOPA responsive dystonia	2020-09-16	no assertion criteria provided	clinical testing