ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.810C>T (p.Ala270=)

gnomAD frequency: 0.07818  dbSNP: rs6348
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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 RCV000530240 SCV000648429 benign Parkinsonism-dystonia, infantile 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001683577 SCV001903147 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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