ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.444C>A (p.Ile148=)

gnomAD frequency: 0.00004  dbSNP: rs186229286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732130 SCV000860040 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Invitae RCV001085802 SCV001008840 benign Parkinsonism-dystonia, infantile 2023-11-03 criteria provided, single submitter clinical testing

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