ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)

dbSNP: rs764861728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001429116 SCV001631828 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-28 criteria provided, single submitter clinical testing
New York Genome Center RCV001839044 SCV002099267 uncertain significance Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-04-30 criteria provided, single submitter clinical testing

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