ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1692G>A (p.Ala564=)

gnomAD frequency: 0.00058  dbSNP: rs143512199
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540600 SCV000652461 likely benign Nephronophthisis 15 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000540600 SCV002806716 likely benign Nephronophthisis 15 2021-12-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056161 SCV005726205 likely benign not specified 2024-11-19 criteria provided, single submitter clinical testing

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