ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)

gnomAD frequency: 0.05616  dbSNP: rs6350
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625457 SCV000745449 benign Classic dopamine transporter deficiency syndrome 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521511 SCV001730868 benign Parkinsonism-dystonia, infantile 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001613413 SCV001835729 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613413 SCV005305596 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625457 SCV000745949 likely benign Classic dopamine transporter deficiency syndrome 2016-04-07 no assertion criteria provided clinical testing

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