ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val)

dbSNP: rs1559058045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493302 SCV002788489 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-12-29 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000723047 SCV000854178 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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