ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2466T>C (p.Ser822=)

dbSNP: rs563608251
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 RCV000902850 SCV001047290 benign Nephronophthisis 15 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000902850 SCV002806698 likely benign Nephronophthisis 15 2021-11-23 criteria provided, single submitter clinical testing

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