ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)

gnomAD frequency: 0.00001  dbSNP: rs1333091798
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985000 SCV001132929 uncertain significance Joubert syndrome 9 2019-08-25 no assertion criteria provided clinical testing

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