ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) (rs776765317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000784981 SCV000923528 uncertain significance Bardet-Biedl syndrome 16 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000784982 SCV000923529 uncertain significance Senior-Loken syndrome 7 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000790917 SCV000930164 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing

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