ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1185+5A>G

dbSNP: rs2105343665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773860 SCV001992066 uncertain significance not provided 2019-04-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016)
Fulgent Genetics, Fulgent Genetics RCV002503202 SCV002813374 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-01 criteria provided, single submitter clinical testing

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