ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)

gnomAD frequency: 0.00080  dbSNP: rs71653633
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000422809 SCV000511222 uncertain significance not provided 2016-08-19 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001084900 SCV000769010 likely benign Parkinsonism-dystonia, infantile 2024-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000647221 SCV000782464 uncertain significance Classic dopamine transporter deficiency syndrome 2016-06-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765817 SCV000897210 uncertain significance Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency syndrome 2018-10-31 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000422809 SCV002035980 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000422809 SCV002038466 likely benign not provided no assertion criteria provided clinical testing

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