ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2362-15C>T

gnomAD frequency: 0.00061  dbSNP: rs201819583
Minimum review status: Collection method:
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001520076 SCV001729088 benign Nephronophthisis 15 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001520076 SCV002811959 likely benign Nephronophthisis 15 2021-10-01 criteria provided, single submitter clinical testing

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