Submissions for variant NM_001044.5(SLC6A3):c.1498+14A>G

gnomAD frequency: 0.97909  dbSNP: rs429699

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000610704	SCV000745442	benign	Classic dopamine transporter deficiency syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513604	SCV001721247	benign	Parkinsonism-dystonia, infantile	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000610704	SCV001763208	benign	Classic dopamine transporter deficiency syndrome	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001692224	SCV001913716	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001692224	SCV005305563	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610704	SCV000734381	benign	Classic dopamine transporter deficiency syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000610704	SCV000745945	benign	Classic dopamine transporter deficiency syndrome	2015-02-07	no assertion criteria provided	clinical testing