ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1086A>C (p.Glu362Asp)

dbSNP: rs1846080018
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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. RCV001277923 SCV001464905 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-04-11 no assertion criteria provided clinical testing

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