ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg)

gnomAD frequency: 0.00029  dbSNP: rs115282473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795321 SCV000934776 likely benign Parkinsonism-dystonia, infantile 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV002509539 SCV002818926 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; This variant is associated with the following publications: (PMID: 24332984)

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