ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)

gnomAD frequency: 0.00589  dbSNP: rs6351
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000857992 SCV000648421 benign Parkinsonism-dystonia, infantile 2024-01-29 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000537027 SCV000745448 benign Classic dopamine transporter deficiency syndrome 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001572080 SCV001796662 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572080 SCV003916931 benign not provided 2024-04-01 criteria provided, single submitter clinical testing SLC6A3: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000537027 SCV000734385 likely benign Classic dopamine transporter deficiency syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001572080 SCV001807587 likely benign not provided no assertion criteria provided clinical testing

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