ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=)

gnomAD frequency: 0.00228  dbSNP: rs28364998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861018 SCV001001221 benign Parkinsonism-dystonia, infantile 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001570789 SCV001795139 likely benign not provided 2019-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001570789 SCV004700401 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SLC6A3: BP4, BP7

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