ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)

dbSNP: rs200113494
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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 RCV000985187 SCV001133202 likely pathogenic Bardet-Biedl syndrome 4 2019-09-26 no assertion criteria provided clinical testing

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