ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3216+20_3216+33del

dbSNP: rs200103555
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 RCV000529850 SCV000652466 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000529850 SCV002795668 likely benign Nephronophthisis 15 2022-02-02 criteria provided, single submitter clinical testing

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