ClinVar Miner

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

gnomAD frequency: 0.00396  dbSNP: rs28364996
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001546699 SCV005259089 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV001546699 SCV004042217 likely benign not provided 2025-06-01 criteria provided, single submitter clinical testing SLC6A3: BP4, BS2
GeneDx RCV001546699 SCV001766262 likely benign not provided 2021-06-16 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000857879 SCV000648426 benign Parkinsonism-dystonia, infantile 2025-01-07 criteria provided, single submitter 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000524904 SCV000734384 likely benign Classic dopamine transporter deficiency syndrome no assertion criteria provided clinical testing

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