ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.688-7T>C

dbSNP: rs539939395
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 RCV000960656 SCV001107664 benign Nephronophthisis 15 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000960656 SCV002809248 likely benign Nephronophthisis 15 2022-03-18 criteria provided, single submitter clinical testing

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