ClinVar Miner

Submissions for variant NM_024753.4(TTC21B):c.-82C>G

dbSNP: rs543599575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382668 SCV000417701 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288189 SCV000417702 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487464 SCV002793816 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-04-05 criteria provided, single submitter clinical testing

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