ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2697A>G (p.Gln899=)

dbSNP: rs770769486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001425556 SCV001628187 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495288 SCV002803801 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275028 SCV001459781 uncertain significance Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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