ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=)

gnomAD frequency: 0.02803  dbSNP: rs6880875
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528991 SCV000648420 benign Parkinsonism-dystonia, infantile 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001712514 SCV001939263 benign not provided 2018-09-21 criteria provided, single submitter clinical testing

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