ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5259A>C (p.Ala1753=)

gnomAD frequency: 0.00001  dbSNP: rs747328752
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489268 SCV001693806 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826974 SCV002094197 likely benign Leber congenital amaurosis 2020-07-28 no assertion criteria provided clinical testing

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