ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)

dbSNP: rs2034578914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559309 SCV001781504 uncertain significance Bardet-Biedl syndrome 14 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559310 SCV001781505 uncertain significance Joubert syndrome 5 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559311 SCV001781506 uncertain significance Meckel syndrome, type 4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559312 SCV001781507 uncertain significance Senior-Loken syndrome 6 2021-07-14 criteria provided, single submitter clinical testing

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