ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1452C>T (p.Pro484=)

gnomAD frequency: 0.00001  dbSNP: rs373736623
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 RCV001424707 SCV001627307 likely benign Nephronophthisis 15 2024-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001424707 SCV002813021 likely benign Nephronophthisis 15 2022-03-24 criteria provided, single submitter clinical testing

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