Submissions for variant NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)

gnomAD frequency: 0.00396  dbSNP: rs28364996

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000857879	SCV000648426	benign	Parkinsonism-dystonia, infantile	2024-01-18	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000524904	SCV000745446	likely benign	Classic dopamine transporter deficiency syndrome	2017-06-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001546699	SCV001766262	likely benign	not provided	2021-06-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001546699	SCV004042217	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SLC6A3: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001546699	SCV005259089	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000524904	SCV000734384	likely benign	Classic dopamine transporter deficiency syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000524904	SCV000745947	likely benign	Classic dopamine transporter deficiency syndrome	2015-04-19	no assertion criteria provided	clinical testing