ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3420A>G (p.Glu1140=)

gnomAD frequency: 0.00001  dbSNP: rs762723146
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874308 SCV001016466 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273079 SCV001455666 uncertain significance Leber congenital amaurosis 2020-03-11 no assertion criteria provided clinical testing

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