ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=)

gnomAD frequency: 0.00001  dbSNP: rs886042467
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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
Eurofins Ntd Llc (ga) RCV000316579 SCV000334343 uncertain significance not provided 2015-09-17 criteria provided, single submitter clinical testing
Invitae RCV001417740 SCV001619945 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-03-16 criteria provided, single submitter clinical testing

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