ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3246C>T (p.His1082=)

gnomAD frequency: 0.00003  dbSNP: rs539042966
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 RCV000867316 SCV001008527 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273080 SCV001455667 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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