ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4695A>G (p.Lys1565=)

gnomAD frequency: 0.00007  dbSNP: rs189871589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867723 SCV001008981 benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-10-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294392 SCV002587480 likely benign Kidney disorder 2021-06-24 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889996 SCV004707660 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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