ClinVar Miner

Submissions for variant NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp)

dbSNP: rs1589797083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809112 SCV002059509 likely pathogenic Distal arthrogryposis type 2B1 2019-04-24 criteria provided, single submitter clinical testing

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