ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) (rs767068756)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics - Radboudumc,Radboudumc RCV000678525 SCV000804598 uncertain significance Bardet-Biedl syndrome 12 2016-09-01 no assertion criteria provided clinical testing
Laboratory of Medical Genetics, INSERM RCV000735935 SCV000839572 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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