ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.15C>T (p.Pro5=)

dbSNP: rs2540314871
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 RCV002952599 SCV003270509 likely benign Nephronophthisis 15 2022-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002952599 SCV005680716 uncertain significance Nephronophthisis 15 2024-05-04 criteria provided, single submitter clinical testing

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