ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)

gnomAD frequency: 0.00001  dbSNP: rs779550219
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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) RCV000591424 SCV000703542 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001474775 SCV001678951 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-08-24 criteria provided, single submitter clinical testing

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