ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2244T>C (p.Ser748=)

gnomAD frequency: 0.00004  dbSNP: rs979564116
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001503522 SCV001708378 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832664 SCV002094298 likely benign Leber congenital amaurosis 2021-09-30 no assertion criteria provided clinical testing

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