ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1523-6T>C

gnomAD frequency: 0.00009  dbSNP: rs755202424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861362 SCV001001658 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275037 SCV001459791 uncertain significance Leber congenital amaurosis 2020-02-13 no assertion criteria provided clinical testing

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