ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3147G>A (p.Glu1049=)

gnomAD frequency: 0.00001  dbSNP: rs575735586
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 RCV001509923 SCV001716836 benign Nephronophthisis 15 2023-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001509923 SCV002803357 likely benign Nephronophthisis 15 2021-10-23 criteria provided, single submitter clinical testing

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