ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3321C>T (p.Ile1107=)

dbSNP: rs2037149786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001468233 SCV001672273 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-04-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279543 SCV001466640 uncertain significance Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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