ClinVar Miner

Submissions for variant NM_000360.4(TH):c.133G>A (p.Ala45Thr)

dbSNP: rs1846204853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001277932 SCV001464917 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-08-14 no assertion criteria provided clinical testing

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