ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)

dbSNP: rs2137303851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV001829271 SCV002097004 uncertain significance Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 criteria provided, single submitter clinical testing

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